Gene: [13q1/ED2] ectodermal dysplasia 2, hidrotic (Clouston syndrome); [HED ]


COM

Kibar-1997 assigned the HED gene to Chr 13q. Radhakrishna-1997 refined the location to Chr 13q11-12.1."

REF

LIN,LOC "Kibar Z &: Hum Mol Genet, 5, N4, 543-547, 1996
LIN,LOC "Radhakrishna U &: Am J Med Genet, 71, N1, 80-86, 1997

KEY

derm

CLA

unknown, basic

LOC

13 q11-12.1

MIM

MIM: 129500

SYN

HED

Смотрите также:

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