A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1
β Scribed by T.G. Markova; S.P. Shevtsov; L.N. Moskolenko; A.A. Lantsov; E.I. Schwartz
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 11 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1059-7794
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π SIMILAR VOLUMES
To follow nomenclature guide. Arg70Trp ## Nucleotide change-Systematic name: Sequential no. in genomic or cDNAsequence. e.g., c1227c->T c.208C>T ## Amino acid change-Trivial name: Codon number and change. e.g., R108W
Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS
Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations i