De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain atrophy on neuroi...

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Enregistré dans:
Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867456/
https://ncbi.nlm.nih.gov/pubmed/26486474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.217
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