Gene: [12p1/ATD] asphyxiating thoracic dystrophy (of newborn); chondroectodermal dysplasia-like syndrome; Jeune syndrome; thoracic-pelvic-phalangeal dystrophy;
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COM |
Nagai-1995 described a 5-year-old Japanese boy who had radiographic findings characteristic of Jeune syndrome in association with a de novo del(12)(p11.21p12.2)." |
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REF |
PAT,LOC,LIN "Nagai T &: Am J Med Genet, 55, 16-18, 1995 |
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KEY |
bone, derm, devd |
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CLA |
unknown, basic |
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LOC |
12 p12.2-11.21 |
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MIM |
MIM: 208500 |
