Talk:GAPO syndrome

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Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles. Here are links to possibly useful sources of information about GAPO syndrome.

PubMed provides review articles from the past five years (limit to free review articles)
The TRIP database provides clinical publications about evidence-based medicine.
Other potential sources include: Centre for Reviews and Dissemination and CDC

Untitled

I will be continuing to update this page in the near future, as part of the requirements for my Advanced Genetics class at Western University. I plan to remove the information about autosomal recessive inheritance, as I believe this should be contained to its own page. I will add sections addressing common signs and symptoms, the genetics behind it, screening and diagnosis, among others. I intend to structure the general framework of the article using the very well constructed Down Syndrome page as a general template

Nwerry (talk) 18:14, 10 October 2015 (UTC)[reply]

Hi, I was thinking of adding a quick edit to this page concerning the ANTXR1 gene mutation which is responsible for the disorder. This will be my first wikipedia edit, so there's anything I should change, please let me know. I just referenced in APA because I'm not yet comfortable with wikipedia's system, but I plan to review how to use it before posting the update.

Homozygous nonsense mutations and splice site mutations occurring in the ANTXR1 gene have been identified as sources of the condition.^[1]

Additionally, I was thinking of removing the information about autosomal recessive disorders, it seems like that would work better as a link to the wikipedia page on the subject, and we should try to keep the GAPO page focused on things specific to the condition.

Thanks, Nwerry (talk) 16:07, 18 September 2015 (UTC)[reply]

References

^ Stránecký V, Hoischen A, Hartmannová H, et al. Mutations in ANTXR1 Cause GAPO Syndrome. American Journal of Human Genetics. 2013;92(5):792-799. doi:10.1016/j.ajhg.2013.03.023.

Wiki Education Foundation-supported course assignment

This article is or was the subject of a Wiki Education Foundation-supported course assignment. Further details are available on the course page. Student editor(s): Nwerry.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 21:58, 16 January 2022 (UTC)[reply]

coarse facial features image

It reads: "While not a defining feature, most sufferers of GAPO syndrome have coarse facial features, and abnormal structure of the middle portion of their faces, typically coupled with a large forehead.[2] Individuals with the disease tend to have depressed nose bridges, protruding ears, and abnormally thick lips, though these symptoms are not unique to this disorder"

Maybe stick another photo on the wikipage showing the 'coarse effect' nearer to the phenotype that can be seen in the GAPO syndrome photos on the internet? — Preceding unsigned comment added by 2A02:C7D:411:1600:226:8FF:FEDC:FD74 (talk) 14:20, 7 May 2016 (UTC)[reply]

[ANTXR1-1] Stránecký V, Hoischen A, Hartmannová H, et al. Mutations in ANTXR1 Cause GAPO Syndrome. American Journal of Human Genetics. 2013;92(5):792-799. doi:10.1016/j.ajhg.2013.03.023.

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