𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Reply to “Parental origin of WT1 mutations and mental retardation in WAGR syndrome”

✍ Scribed by Jinno, Yoshihiro; Reeve, Anthony


Book ID
109916917
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
460 KB
Volume
8
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Paternal bias in parental origin of HRAS
✍ Katia Sol-Church; Deborah L. Stabley; Linda Nicholson; Iris L. Gonzalez; Karen W 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB

## Communicated by Haig H. Kazazian Costello syndrome (CS) is a rare congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We have identified 39 CS patients harboring the p.Gly12Ser mutation (NM\_005343.2:c.34 G4A), two pa

Parental origin and somatic mosaicism of
✍ Sara Parodi; Tiziana Bachetti; Francesca Lantieri; Marco Di Duca; Giuseppe Santa 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

## Communicated by Michel Goossens Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by absence of adequate control of respiration during sleep. Here we report a PHOX2B mutational screen

WT1 mutations in Meacham syndrome sugges
✍ Mohnish Suri; Peter Kelehan; David O'Neill; Shantala Vadeyar; Judith Grant; S. F 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB

## Abstract Meacham syndrome is a rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities. We repo

The expanding phenotype of POMT1 mutatio
✍ Jeroen van Reeuwijk; Svetlana Maugenre; Christa van den Elzen; Aad Verrips; Enri 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 269 KB

The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS p