A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one of...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Ryan Chao, Linda Nevin, Pooja Agarwal, Jan Riemer, Xiaoyang Bai, Allen Delaney, Matthew Akana, Nelson JimenezLopez, Tanya Bardakjian, Adele Schneider, Nicolas Chassaing, Daniel F Schorderet, David FitzPatrick, Pui-yan Kwok, Lars Ellgaard, Douglas B Gould, Yan Zhang, Jarema Malicki, Herwig Baier, Anne Slavotinek
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Public Library of Science (PLoS) 2010-05-01
سلاسل:	PLoS ONE
الوصول للمادة أونلاين:	http://europepmc.org/articles/PMC2868029?pdf=render
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!