𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Fraser syndrome due to mutations in GRIP1 -Clinical phenotype in two families and expansion of the mutation spectrum

✍ Scribed by Schanze, Denny; Kayserili, Hülya; Satkın, Bilge N.; Altunoglu, Umut; Zenker, Martin


Book ID
121823625
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
452 KB
Volume
164
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


SALL1 mutation analysis in Townes-Brocks
✍ Elke M. Botzenhart; Andrew Green; Helena Ilyina; Rainer König; R. Brian Lowry; I 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB

Townes-Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb malformations. TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator SAL of Drosophila melanogaster. T

Familial neonatal Marfan syndrome due to
✍ Mustafa Tekin; Filiz Başak Cengiz; Eda Ayberkin; Tanıl Kendirli; Suat Fitoz; Erc 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 209 KB 👁 2 views

## Abstract We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficien