合計: 1 |
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PMID (PMCID) | ||
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23564514 |
MALE | Infant, Newborn |
Acampomelic form of campomelic dysplasia with SOX9 missense mutation. | ||
Gopakumar H, Superti-Furga A, Unger S, Scherer G, Rajiv PK, Nampoothiri S. Indian J Pediatr. 2014;81(1):98-100. |
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Campomelic dysplasia is a skeletal dysplasia characterized by flat face, Pierre Robin sequence, shortening and bowing of long bones and club feet. |