Gene: [17q2/SOX9] SRY (sex-determining region Y)-box 9; campomelic dysplasia, autosomal sex-reversal (campomelic dwarfism); [SRA1 CMD1 ]
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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 |
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KEY |
devd |
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CLA |
coding, basic |
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LOC |
17 q24.3-25.1 |
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MIM |
MIM: 114290 |
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SYN |
SRA1 CMD1 |
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