𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

✍ Scribed by Raynaud, Martine; Dessay, Sabine; Ronce, Nathalie; Opitz, John; Pembrey, Marcus; Romano, Corrado; Moraine, Claude; Briault, Sylvain


Book ID
110025376
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
91 KB
Volume
11
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


BοΏ½rjeson-Forssman-Lehmann syndrome in a
✍ Kubota, Takeo; Oga, Satoko; Ohashi, Hirofumi; Iwamoto, Yasuhiko; Fukushima, Yosh πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 17 KB πŸ‘ 2 views

Bo Β¨rjeson-Forssman-Lehmann (BFL) syndrome is an X-linked recessive disorder characterized by minor facial anomalies, obesity, epilepsy, and severe mental retardation. The phenotype of male patients is usually severe, whereas that of carriers is less severe, suggesting X-linked incompletely recessiv

Inheritance of skewed X chromosome inact
✍ Ørstavik, Karen Helene; Elise Ørstavik, Ragnhild; Eiklid, Kristin; TranebjΓ¦rg, L πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 19 KB πŸ‘ 3 views

A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome

Hemophilia B in a female carrier due to
✍ Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 234 KB πŸ‘ 2 views

A novel missense mutation (codon 351, GCT (Ala) β†’ CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. She is heterozygous for the FIX mutation inherited from her carrier mother. Analysis of the methyl-sensitive Hpa II sites at the 5 end of the hypoxanthine phosphor