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Description Patient at age 12 showing dsymorphic features including microcephaly (head circumference 43 cm), hypertelorism, broad nasal bridge, broadened tip of the nose, and thin upper lip. A photograph of this patient and the description of her mutations have previously been presented in figure 2 of the report by O'Driscoll et al. [4]. It should be noted that there is a labeling error in the legend of figure 2 in reference [4]: The text corresponding to the photograph of our patient is marked with (B) but should read (C).
Date 6 September 2007 (upload date)
Source Gruhn B, Seidel J, Zintl F, Varon R, Tönnies H, Neitzel H, Bechtold A, Hoehn H, Schindler D. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Orphanet J Rare Dis. 2, 5. 2007. PMID 17224058.
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6 September 2007

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current14:34, 6 September 2007Thumbnail for version as of 14:34, 6 September 20071,200 × 1,700 (155 KB)Filip em{{Information |Description=Patient at age 12 showing dsymorphic features including microcephaly (head circumference 43 cm), hypertelorism, broad nasal bridge, broadened tip of the nose, and thin upper lip. A photograph of this patient and the description

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