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Further evidence for FGF16 truncating mutations as the cause of X‐linked recessive fusion of metacarpals 4 / 5
Authors:Aleksander Jamsheer  Robert Śmigiel  Aleksandra Jakubiak  Tomasz Zemojtel  Magdalena Socha  Peter N. Robinson  Stefan Mundlos
Affiliation:1. Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland;2. NZOZ Center for Medical Genetics GENESIS, Poznan, Poland;3. Department of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland;4. Department of Genetics, Wroclaw Medical University, Wroclaw, Poland;5. Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland;6. Institute for Medical Genetics and Human Genetics, Charité‐Universit?tsmedizin Berlin, Berlin, Germany;7. Max Planck Institute for Molecular Genetics, Berlin, Germany;8. Berlin‐Brandenburg Center for Regenerative Therapies (BCRT), Charité‐Universit?tsmedizin Berlin, Berlin, Germany
Abstract:
Keywords:metacarpal 4–  5 fusion  metacarpal synostosis  X‐linked inheritance  FGF16  truncating mutation  connective tissue  MF4
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