A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
Brown
Chester W
CW
Levy
Moise L
ML
Flaitz
Catherine M
CM
Reid
Barbara S
BS
Manolidis
Spiros
S
Hebert
Adelaide A
AA
Bender
Matthew M
MM
Heilstedt
Heidi A
HA
Plunkett
Katie S
KS
Fang
Ping
P
Roa
Benjamin B
BB
Chung
Pil
P
Tang
Hsiao-Yuan
HY
Richard
Gabriele
G
Alford
Raye L
RL
D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D012871:Skin Diseases / Q000235:genetics*
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26