title: A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
authors.forename: Chester W
authors.initials: CW
authors.lastname: Brown
authors.forename: Moise L
authors.initials: ML
authors.lastname: Levy
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Flaitz
authors.forename: Barbara S
authors.initials: BS
authors.lastname: Reid
authors.forename: Spiros
authors.initials: S
authors.lastname: Manolidis
authors.forename: Adelaide A
authors.initials: AA
authors.lastname: Hebert
authors.forename: Matthew M
authors.initials: MM
authors.lastname: Bender
authors.forename: Heidi A
authors.initials: HA
authors.lastname: Heilstedt
authors.forename: Katie S
authors.initials: KS
authors.lastname: Plunkett
authors.forename: Ping
authors.initials: P
authors.lastname: Fang
authors.forename: Benjamin B
authors.initials: BB
authors.lastname: Roa
authors.forename: Pil
authors.initials: P
authors.lastname: Chung
authors.forename: Hsiao-Yuan
authors.initials: HY
authors.lastname: Tang
authors.forename: Gabriele
authors.initials: G
authors.lastname: Richard
authors.forename: Raye L
authors.initials: RL
authors.lastname: Alford
mesh_terms: 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*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26