SOX2
MIM.184429 3q26.3-q27
SRY-box 2, SRY-related HMG-box gene 2
germline mutations in
References
Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen VV, Fitzpatrick DR. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A. 2006 Feb 6;140A(6):636-639 PMID: #16470798#
Forum de l'article
Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.Copyright www.humpath.com