Gene: [00.0/STO] Sotos syndrome (cerebral gigantism);
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COM |
Schrander-Stumpel-1990 described a 6-year-old boy with Sotos syndrome and a de novo apparently balanced translocation t(3;6)(p21;p21). Maroun-1994 reported on a 4-year-old girl with Sotos phenotype and and a de novo balanced translocation t(5;15)(q35;q22)." |
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REF |
ABR,PAT "Maroun C &: Am J Med Genet, 50, N3, 291-293, 1994 ABR,PAT "Schrander-Stumpel CT &: Clin Genet, 37, N3, 226-229, 1990 |
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CLA |
unknown, basic |
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LOC |
RS |
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MIM |
MIM: 117550 |
