TY  - GEN
AU  - de Zwart-Storm,E A
AU  - van Geel,M
AU  - Veysey,E
AU  - Burge,S
AU  - Cooper,S
AU  - Steijlen,P M
AU  - Martin,P E
AU  - van Steensel,M A M
TI  - A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome
SN  - 1365-2133
PY  - 2011///0427
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Connexin 26
KW  - Connexins
KW  - Gap Junctions
KW  - Hand Deformities, Congenital
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Keratoderma, Palmoplantar
KW  - Male
KW  - Mutation, Missense
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/j.1365-2133.2010.10058.x
ER  -