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
✦ 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
Optic atrophy plus phenotype due to muta
✍
Michela Ranieri; Roberto Del Bo; Andreina Bordoni; Dario Ronchi; Irene Colombo;
📂
Article
📅
2012
🏛
Elsevier Science
🌐
English
⚖ 538 KB
Novel mutations in the MNX1 gene in two
✍
Ellen Markljung; Tatjana Adamovic; Jia Cao; Hussein Naji; Sylvie Kaiser; Tomas W
📂
Article
📅
2012
🏛
Elsevier Science
🌐
English
⚖ 569 KB
Familial transmission of oculoauriculove
✍
Kara Goodin; Sandra Prucka; Audie L. Woolley; Juergen Kohlhase; Richard J.H. Smi
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 127 KB
P225 Inherited leukoencephalopathy due t
✍
V. Murugan; K. Lachlan; A. Whitney
📂
Article
📅
2009
🏛
Elsevier Science
🌐
English
⚖ 41 KB
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