✦ LIBER ✦

Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene

✍ Scribed by Tawfeg Ben-Omran; Rehab Ali; Mariam Almureikhi; Seham Alameer; Muna Al-Saffar; Christopher A. Walsh; Jillian M. Felie; Ahmad Teebi

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 160 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34219

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel homeobox mutation in the PITX2 g

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

✍ Faisal Idrees; Agnes Bloch-Zupan; Samantha L. Free; Daniela Vaideanu; Pamela J. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB 👁 2 views

## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio

Two new missense mutations (A105T and C1

Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

✍ Torrente, Isabella; Mangino, Massimo; Gennarelli, Massimo; Novelli, Giuseppe; Gi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Mutation analysis of the FRAS1 gene demo

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome

✍ 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

New frameshift mutation, insertion of A,

New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families

✍ Shiping Cai; Farid F. Chehab 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB 👁 1 views

A new X-linked syndrome with agenesis of

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in theAlpha 4 gene at Xq13

✍ Graham Jr., John M. ;Wheeler, Patricia ;Tackels-Horne, Darci ;Lin, Angela E. ;Ha 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 1 views

## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low‐set cupped ears with sensorineural hearing loss, normal phall

A new case of HDR syndrome with severe f

A new case of HDR syndrome with severe female genital tract malformation: Comment on “Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations” by Hernández et al.

✍ Oana Moldovan; Raquel Carvalho; Zulmira Jorge; Ana Medeira 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 2 views