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
## 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
## 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
## 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 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