Gene: [0Xq131/ED1] ectodermal dysplasia 1 gene; ectodermal dysplasia 1, anhidrotic (hypohydrotic), X-linked; Christ-Siemens-Touraine syndrome; [EDA EDA1 ]


REL

GEM:13q1/ED2; GEM:02q1/ED3; GEM:00.0/ED4; GEM:00.0/ED.

REF

LOC,CYG,MOL "Clarke A &: Hum Genet, 75, 378-380, 1987
CLO,SEQ,MUT "Kere J &: Nature Genet, 13, 409-416, 1996
LOC,CYG,MOL "Macdermot KD &: Hum Genet, 74, 172-172, 1986
PHE,FOG,MGC "Soderholm A-L, Kaitila I: Clin Genet, 28, 136-144, 1985
LOC "Srivastava AK &: AJHG, 58, 126-132, 1996
LOC "Zonana J &: AJHG, 52, 78-84, 1993
LOC,PND "Zonana J &: AJHG, 43, 75-85, 1988a
LOC,PND "Zonana J &: J Med Genet, 25, 383-386, 1988b

SWI

SWISSPROT: Q92838

KEY

derm

CLA

coding, basic

LOC

0X q13.1

MIM

MIM: 305100

SYN

EDA EDA1