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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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
Soggetti:
Short Report
Accesso online: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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