Pathogenic Variants in GPC4 Cause Keipert Syndrome

David J. Amor, Sarah E.M. Stephenson, Mirna Mustapha, Martin A. Mensah, Charlotte W. Ockeloen, Wei Shern Lee, Rick M. Tankard, Dean G. Phelan, Marwan Shinawi, Arjan P.M. de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L. Toler, V. Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav DumićWilliam Reardon, Charles Shaw-Smith, Richard J. Leventer, Martin B. Delatycki, Tjitske Kleefstra, Stefan Mundlos, Geert Mortier, Melanie Bahlo, Nicola J. Allen, Paul J. Lockhart

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Immunology and Microbiology

Keyphrases

Pharmacology, Toxicology and Pharmaceutical Science

Biochemistry, Genetics and Molecular Biology