LIG4

Tillskrivning:

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Kreditera:

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.

Kort länk:

https://sewiki.info/b/c907d

Källa:

Wikimedia Commons

Upplösning:

1200 x 1700 Pixel (158559 Bytes)

Beskrivning:

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).

Licens:

CC BY 2.0

Licensvillkor:

Creative Commons Attribution 2.0