✦ LIBER ✦

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation

✍ Scribed by Larissa V. Furtado; Pinar Bayrak-Toydemir; Becki Hulinsky; Kristy Damjanovich; John C. Carey; Alan F. Rope

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 172 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33674

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new X-linked multiple congenital anoma

A new X-linked multiple congenital anomalies/ mental retardation syndrome

✍ Golabi, Mahin ;Ito, Melani ;Hall, Bryan D. ;Opitz, John M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 1 views

A novel Gln358Glu mutation in ectodyspla

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia

✍ Patrick Tarpey; Trevor J. Pemberton; David W. Stockton; Parimal Das; Vasiliki Ni 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB 👁 1 views

Multiple congenital anomalies associated

Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: A phenocopy of the isotretinoin syndrome?

✍ Lungarotti, M. S. ;Marinelli, D. ;Mariani, T. ;Calabro, A. ;Opitz, John M. ;Reyn 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 498 KB 👁 2 views

Radioulnar synostosis, radial ray abnorm

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?

✍ Manouvrier, Sylvie; Moerman, Alexandre; Coeslier, Anne; Devisme, L.; Boute, Odil 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, u

Novel missense mutation (Leu466Arg) of t

Novel missense mutation (Leu466Arg) of theDAX1 gene in a patient with X-linked congenital adrenal hypoplasia

✍ Abe, Shuji; Nakae, Jun; Yasoshima, Kouichi; Tajima, Toshihiro; Shinohara, Nozomi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv

Novel KCNQ1 mutations associated with re

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT Syndromes: Evidence for variable hearing phenotype associated with R518X

✍ Jian Wei; Frank A. Fish; Robert J. Myerburg; Dan M. Roden; Alfred L. George Jr. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 1 views

Congenital long QT syndrome may be transmitted as either an autosomal dominant or recessive trait. Two families with the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), and one family with the autosomal dominant Romano-Ward syndrome (RWS) were evaluated for mutations in KCNQ1. Two dif