𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene

✍ Scribed by José Rafael Blesa; Abelardo Solano; Paz Briones; Jesús Angel Prieto-Ruiz; José Hernández-Yago; Francisco Coria


Publisher
Humana Press Inc
Year
2007
Tongue
English
Weight
286 KB
Volume
9
Category
Article
ISSN
1535-1084

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Blepharospasm and limb dystonia caused b
✍ Hee T. Kim; Mark J. Edwards; Jess Tyson; Niall P. Quinn; Maria Bitner-Glindzicz; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB

## Abstract Mohr‐Tranebjaerg syndrome (MTS) is an X‐linked disorder characterized by childhood‐onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (__DDP1__) gene. We describe a sporadic 42‐year‐old man with

Mutation analysis of the FRAS1 gene demo
✍ A. Slavotinek; C. Li; E.H. Sherr; A.E. Chudley 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB 👁 2 views

## Abstract Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the __FRAS1__ gene

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