Gene: [01p/WS2B] Waardenburg syndrome, type 2B;
|
COM |
Lalwani-1994 mapped a WS2B gene to 1p21-p13.3. |
|
PAT |
The main symptoms are: sensorineural hearing loss, heterochromia irides, white forelock and early graying." |
|
FOG |
Autosomal dominant. |
|
REF |
PAT,FOG,HET "Farrer LA &: AJHG, 55, 728-737, 1994 PAT,LOC,LIN "Lalwani AK &: AJHG, 55, A14-14, 1994 |
|
KEY |
neu, eye |
|
CLA |
unknown, basic |
|
LOC |
01 p21-13.3 |
|
MIM |
MIM: 600193 |
Ссылки:
- Gene: [02q36/PAX3] paired box homeotic gene 3; Waardenburg syndrome, type 1; Waardenburg syndrome, type 3 (with upper limb anomalies; Klein-Waardenburg syndrome; MIM:148820); rhabdomyosarcoma, type 2 (alveolar; MIM:268220); craniofacial-dea
- Gene: [03p1/MITF] microphthalmia-associated transcription factor; Waardenburg syndrome, type 2A (WS2A; MIM:193510); [WS2A ]
