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Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms
Institution:1. Krankenanstalt Rudolfstiftung, Vienna, Austria;2. Disciplina de Neurociência, Escola Paulista de Medicina, Universidade Federal de São Paulo EPM/UNIFESP. São Paulo, Brazil
Abstract:
Keywords:Cenani-Lenz syndactyly  Short stature  Shoulder joint  Cleft-lip  Pakistani family
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