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User:Artsyavocado02/Du Pan syndrome/Bibliography

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Bibliography

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Edit this section to compile the bibliography for your Wikipedia assignment. Add the name and/or notes about what each source covers, then use the "Cite" button to generate the citation for that source.

  • "Orphanet: Fibular aplasia-complex brachydactyly syndrome".[1]
    • This is a medical database entry. While reliable for factual data, it is not a peer-reviewed source and may lack depth for notability purposes.
  • Szczaluba, K.; Hilbert, K.; Obersztyn, E.; Zabel, B.; Mazurczak, T.; Kozlowski, K. (2005). "Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene". American Journal of Medical Genetics Part A.[2]
    • This is a peer-reviewed scientific journal, so it is a reliable source. It provides detailed information on Du Pan syndrome to help understand the molecular basis.
  • Stange, Katja; Désir, Julie; Kakar, Naseebullah; Mueller, Thomas D.; Budde, Birgit S.; Gordon, Christopher T.; Horn, Denise; Seemann, Petra; Borck, Guntram (2015). "A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia". Orphanet Journal of Rare Diseases.[3]
    • This is a peer-reviewed article that discusses the mutation of BMPR1B. It is reliable and useful for understanding the genetic variability of the condition.
  • Ahmad, Mahmud; Abbas, Hasan; Wahab, Abdul; Haque, Sayedul (1990). "Fibular hypoplasia and complex brachydactyly (Du Pan Syndrome) in an inbred Pakistani kindred". American Journal of Medical Genetics.[4]
    • This is a peer-reviewed case study of a Pakistani family affected by the syndrome. This is reliable and offers a specific cultural and genetic context to enhance understanding.
  • "Entry - #228900 - ACROMESOMELIC DYSPLASIA 2B; AMD2B - OMIM". omim.org.[5]
    • This is a reliable database.
  • Turgut, G. Tutku; Kalelioglu, Ibrahim Halil; Karaman, Volkan; Sivrikoz, Tugba Sarac; Karaman, Birsen; Uyguner, Zehra Oya; Kalayci, Tugba (2023). "Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome". Molecular Syndromology.[6]
    • This peer-reviewed article focuses on prenatal diagnostic aspects of the syndrome which provides new insights into the clinical presentation.
  • "Acromesomelic dysplasia 2B (Concept Id: C1856738) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-11-23.[7]
    • This NCBI database provides detailed medical and genetic information. It is reliable factual data but lacks peer-reviewed depth.
  • Douzgou, Sofia; Lehmann, Katarina; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno (2008-08-15). "Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia". American Journal of Medical Genetics Part A.[8]
    • This peer-reviewed article discusses genetic variation in GDF5 in the syndrome. It is a reliable source.
  • Faiyaz‐Ul‐Haque, M; Ahmad, W; Zaidi, She; Haque, S; Teebi, As; Ahmad, M; Cohn, Dh; Tsui, L‐C (2002). "Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)". Clinical Genetics.[9]
    • This peer-reviewed article explored CDMP1 mutations in Du Pan syndrome which provides an in-depth understanding of the molecular genetics involved.
  • Abdelrazek, Ibrahim; Knaus, Alexej; Javanmardi, Behnam; Krawitz, Peter; Horn, Denise; Abdalla, Ebtesam; Kumar, Sheetal (2024). "Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding". Molecular Genetics & Genomic Medicine.[10]
    • This is a peer-reviewed article, so it is reliable.
  • "Orphanet: Clinical signs and symptoms". www.orpha.net.[11]
    • This is a medical database entry. While reliable for factual data, it is not a peer-reviewed source and may lack depth for notability purposes.
  • Karol, Lori A.; Jeans, Kelly A. (2021). "This is a narrative review of the functional evaluation of clubfoot treatment with gait analysis". Annals of Translational Medicine.[12]
    • This is a peer-reviewed narrative review. While unrelated to Du Pan syndrome directly, it discusses limb malformations, providing comparative context.
  • "Autosomal Recessive Disorder". www.genome.gov.[13]
    • Reliable for definitions. Not specific to Du Pan syndrome.
  • Mundlos, Stefan; Horn, Denise (2014), Mundlos, Stefan; Horn, Denise (eds.), "Grebe Dysplasia; Hunter–Thompson Dysplasia; Du Pan Dysplasia; Chondrodysplasia, Acromesomelic, BMPR1B Type", Limb Malformations: An Atlas of Genetic Disorders of Limb Development.[14]
    • This is a reliable source for understanding the anatomical and genetics aspects of the syndrome.
  • "Autosomal Dominant Disorder". www.genome.gov.[15]
    • Reliable for definitions. Not specific to Du Pan syndrome.
  • "Acromesomelic Dysplasia - Symptoms, Causes, Treatment | NORD". rarediseases.org (in European Spanish).[16]
    • This source offers reliable information but is not peer-reviewed so keep that in mind.
  • "Acromesomelic Dysplasia | Research Focus Areas | Center for the Study of Genetic Skeletal Disorders Research | Research Centers | Research | Boston Children's Hospital". www.childrenshospital.org.[17]
    • This is a helpful and trustworthy source.
  • "Orphanet: Clinical signs and symptoms". www.orpha.net.[18]
    • This is a medical database entry. While reliable for factual data, it is not a peer-reviewed source and may lack depth for notability purposes.
  • "Orphanet: Clinical signs and symptoms". www.orpha.net.[19]
    • This is a medical database entry. While reliable for factual data, it is not a peer-reviewed source and may lack depth for notability purposes.

References

[edit]
  1. ^ "Orphanet: Fibular aplasia-complex brachydactyly syndrome". www.orpha.net. Retrieved 2024-11-24.
  2. ^ Szczaluba, K.; Hilbert, K.; Obersztyn, E.; Zabel, B.; Mazurczak, T.; Kozlowski, K. (2005). "Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene". American Journal of Medical Genetics Part A. 138A (4): 379–383. doi:10.1002/ajmg.a.30969. ISSN 1552-4825.
  3. ^ Stange, Katja; Désir, Julie; Kakar, Naseebullah; Mueller, Thomas D.; Budde, Birgit S.; Gordon, Christopher T.; Horn, Denise; Seemann, Petra; Borck, Guntram (2015-06-24). "A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia". Orphanet Journal of Rare Diseases. 10 (1): 84. doi:10.1186/s13023-015-0299-5. ISSN 1750-1172. PMC 4482310. PMID 26105076.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  4. ^ Ahmad, Mahmud; Abbas, Hasan; Wahab, Abdul; Haque, Sayedul (1990). "Fibular hypoplasia and complex brachydactyly (Du Pan Syndrome) in an inbred Pakistani kindred". American Journal of Medical Genetics. 36 (3): 292–296. doi:10.1002/ajmg.1320360309. ISSN 0148-7299.
  5. ^ "Entry - #228900 - ACROMESOMELIC DYSPLASIA 2B; AMD2B - OMIM". omim.org. Retrieved 2024-11-24.
  6. ^ Turgut, G. Tutku; Kalelioglu, Ibrahim Halil; Karaman, Volkan; Sarac Sivrikoz, Tugba; Karaman, Birsen; Uyguner, Zehra Oya; Kalayci, Tugba (2023). "Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome". Molecular Syndromology. 14 (2): 152–157. doi:10.1159/000527955. ISSN 1661-8769. PMC 10091002. PMID 37064338.{{cite journal}}: CS1 maint: PMC format (link)
  7. ^ "Acromesomelic dysplasia 2B (Concept Id: C1856738) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-11-24.
  8. ^ Douzgou, Sofia; Lehmann, Katarina; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno (2008-08-15). "Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia". American Journal of Medical Genetics Part A. 146A (16): 2116–2121. doi:10.1002/ajmg.a.32435. ISSN 1552-4825.
  9. ^ Faiyaz‐Ul‐Haque, M; Ahmad, W; Zaidi, She; Haque, S; Teebi, As; Ahmad, M; Cohn, Dh; Tsui, L‐C (2002). "Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)". Clinical Genetics. 61 (6): 454–458. doi:10.1034/j.1399-0004.2002.610610.x. ISSN 0009-9163.
  10. ^ Abdelrazek, Ibrahim; Knaus, Alexej; Javanmardi, Behnam; Krawitz, Peter; Horn, Denise; Abdalla, Ebtesam; Kumar, Sheetal (2024). "Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding". Molecular Genetics & Genomic Medicine. 12 (10). doi:10.1002/mgg3.70023. ISSN 2324-9269. PMC 11497645. PMID 39441036.{{cite journal}}: CS1 maint: PMC format (link)
  11. ^ "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2024-11-24.
  12. ^ Karol, Lori A.; Jeans, Kelly A. (2021). "This is a narrative review of the functional evaluation of clubfoot treatment with gait analysis". Annals of Translational Medicine. 9 (13): 1105–1105. doi:10.21037/atm-20-6922. ISSN 2305-5847. PMC 8339835. PMID 34423017.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  13. ^ "Autosomal Recessive Disorder". www.genome.gov. Retrieved 2024-11-24.
  14. ^ Mundlos, Stefan; Horn, Denise (2014), Mundlos, Stefan; Horn, Denise (eds.), "Grebe Dysplasia; Hunter–Thompson Dysplasia; Du Pan Dysplasia; Chondrodysplasia, Acromesomelic, BMPR1B Type", Limb Malformations: An Atlas of Genetic Disorders of Limb Development, Berlin, Heidelberg: Springer, pp. 247–250, doi:10.1007/978-3-540-95928-1_97, ISBN 978-3-540-95928-1, retrieved 2024-11-24
  15. ^ "Autosomal Dominant Disorder". www.genome.gov. Retrieved 2024-11-24.
  16. ^ "Acromesomelic Dysplasia - Symptoms, Causes, Treatment | NORD". rarediseases.org (in European Spanish). Retrieved 2024-11-24.
  17. ^ "Acromesomelic Dysplasia | Research Focus Areas | Center for the Study of Genetic Skeletal Disorders Research | Research Centers | Research | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2024-11-24.
  18. ^ "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2024-11-24.
  19. ^ "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2024-11-24.

Outline of proposed changes

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