Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Nizon, Mathilde, Cogne, Benjamin, Vallat, Jean-Michel, Joubert, Madeleine, Liet, Jean-Michel, Simon, Laure, Vincent, Marie, Küry, Sébastien, Boisseau, Pierre, Schmitt, Sébastien, Mercier, Sandra, Bénéteau, Claire, Larrose, Catherine, Coste, Marianne, Latypova, Xénia, Péréon, Yann, Mussini, Jean-Marie, Bézieau, Stéphane, Isidor, Bertrand
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5159775/
https://ncbi.nlm.nih.gov/pubmed/27782105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.142
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