Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
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O. Sarig | J. Uitto | E. Sprecher | M. Horowitz | R. Spiegel | S. Shalev | D. Rapaport | J. Nousbeck | Z. Borochowitz | S. Nahum | S. Israeli | L. Qiaoli | Ksenya Cohen-Katsenelson | G. Padalon-Brauch | A. Ishida‐Yamamoto | D. Fuchs‐Telem