𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

✍ Scribed by Antonio Viñuela; Matías Morín; Manuela Villamar; Constantino Morera; M. José Lavilla; Laura Cavallé; Miguel A. Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
281 KB
Volume
149A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Twelve novel myosin VIIA mutations in 34
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity
✍ Andreas R. Janecke; Moritz Meins; Mojy Sadeghi; Kathrin Grundmann; Eckart Apfels 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least

Molecular genetics of the long QT syndro
Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred
✍ Kirsi Saarinen; Heikki Swan; Katariina Kainulainen; Lauri Toivonen; Matti Viitas 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB 👁 2 views

At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac pota

A novel G499D substitution in the α1(III
A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV
✍ Joel McGrory; Teresa Costa; William G. Cole 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB

Cmvc fur the Srudy of HcriTitabIe Cunnectiuc Tissue Discnrcs, Division of Orthoj~&~cs (1. M., W. G. C.) ; Division of Clinical Cmetic5 (T. C. ), Hospitnl fin Sick Childrm, Turonm, Ontnsio, C a d M5G I X8; Fax: 4 16-8 13-64 I4 Cmnmunicntld b~ Charles R. Sn'um