𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Left-sided CHILD syndrome caused by a nonsense mutation in theNSDHL gene

✍ Scribed by Hummel, Marybeth ;Cunningham, David ;Mullett, Charles J. ;Kelley, Richard I. ;Herman, Gail E.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
206 KB
Volume
122A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


ABCD syndrome is caused by a homozygous
✍ Verheij, Joke B.G.M. ;Kunze, JοΏ½rgen ;Osinga, Jan ;van Essen, Anthonie J. ;Hofstr πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 106 KB πŸ‘ 2 views

## Abstract ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah‐Waardenburg syndrome, comprising sensor

Mutations in the NSDHL gene, encoding a
✍ KοΏ½nig, Arne; Happle, Rudolf; Bornholdt, Dorothea; Engel, Hartmut; Grzeschik, Kar πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 98 KB πŸ‘ 2 views

We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at

Novel nonsense mutation in the hypoxanth
✍ Bernard Aral; GeneviΓ¨ve de Saint Basile; Sami Al-Garawi; Pierre Kamoun; IrΓ¨ne Ce πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 685 KB

Lesch-Nyhan (LN) disease is a severe X-linked recessive neurological disorder associated with a loss of hypoxanthine guanine phosphoribosyltransferase activity (HPRT, EC 2.4.2.8). We have studied the second example of a female patient with LN disease. The molecular basis of HPRT deficiency in this p

Different ocular abnormalities in indivi
✍ Yana Syagailo; Klaus Wilke; Olga Okladnova; Antonin Eigel; Marta Lemmens; Vladim πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 194 KB πŸ‘ 2 views

PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene, excha