TY  - GEN
AU  - Youssefian,Leila
AU  - Vahidnezhad,Hassan
AU  - Saeidian,Amir Hossein
AU  - Mahmoudi,Hamidreza
AU  - Karamzadeh,Razieh
AU  - Kariminejad,Ariana
AU  - Huang,Jianhe
AU  - Li,Leping
AU  - Jannace,Thomas F
AU  - Fortina,Paolo
AU  - Zeinali,Sirous
AU  - White,Thomas W
AU  - Uitto,Jouni
TI  - A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma
SN  - 1098-1004
PY  - 2020///0309
KW  - Animals
KW  - Connexin 26
KW  - Connexins
KW  - genetics
KW  - Hearing Loss, Bilateral
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Ichthyosis
KW  - Keratoderma, Palmoplantar
KW  - Metalloendopeptidases
KW  - Mutation, Missense
KW  - Oocytes
KW  - growth & development
KW  - Pedigree
KW  - Skin
KW  - metabolism
KW  - Xenopus
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1002/humu.23686
ER  -