Gene: [17q2/SOX9] SRY (sex-determining region Y)-box 9; campomelic dysplasia, autosomal sex-reversal (campomelic dwarfism); [SRA1 CMD1 ]

REF

MUT "Cameron FJ, Sinclair AH: Hum Mut, 9, N5, 388-395, 1997
MUT "Cameron FJ &: Hum Mol Genet, 5, N10, 1625-1630, 1996
LOC,PAT "Cooke CT &: Pathology, 17, N3, 526-529, 1985
LOC,MUT "Foster JW &: Nature, 372, 525-530, 1994
PND "Fryns JP &: Clin Genet, 19, N3, 199-201, 1981
SEQ "Goodfellow PN &: Nature, 372, 525-530, 1994
REV,PHE,FOG "Houston CS &: Am J Med Genet, 15, N1, 3-28, 1983
MUT "Meyer J &: Hum Mol Genet, 6, N1, 91-98, 1997
CLO,SEQ "Ninomiya S &: Hum Mol Genet, 5, N1, 69-72, 1996
LOC,ABR,REV "Ninomiya S &: Am J Med Genet, 56, N1, 31-34, 1995
LOC "Tommerup N &: Nature Genet, 4, 170-174, 1993
CLO,SEQ,MUT "Wagner T &: Cell, 79, N6, 1111-1120, 1994

KEY

devd

CLA

coding, basic

LOC

17 q24.3-25.1

MIM

MIM: 114290

SYN

SRA1 CMD1

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