(Q50349826)
English
camptodactyly-tall stature-scoliosis-hearing loss syndrome
autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16
- CATSHL syndrome
- CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
- Camptodactyly, tall stature, and hearing loss syndrome
Statements
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Identifiers
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