𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

✍ Scribed by Carvalho, Ana; Hermanns, Pia; Rodrigues, Ana-Luísa; Sousa, Isabel; Anselmo, João; Bikker, Hennie; Cabral, Rita; Pereira-Duarte, Carlos; Mota-Vieira, Luísa; Pohlenz, Joachim


Book ID
121079808
Publisher
Mary Ann Liebert
Year
2013
Tongue
English
Weight
201 KB
Volume
23
Category
Article
ISSN
1050-7256

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Different ocular abnormalities in indivi
✍ Yana Syagailo; Klaus Wilke; Olga Okladnova; Antonin Eigel; Marta Lemmens; Vladim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB 👁 2 views

PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene, excha