Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

PURPOSE: A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic...

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Detalles Bibliográficos
Autores principales: Rahikkala, Elisa, Myllykoski, Matti, Hinttala, Reetta, Vieira, Päivi, Nayebzadeh, Naemeh, Weiss, Simone, Plomp, Astrid S., Bittner, Reginald E., Kurki, Mitja I., Kuismin, Outi, Lewis, Andrea M., Väisänen, Marja-Leena, Kokkonen, Hannaleena, Westermann, Jonne, Bernert, Günther, Tuominen, Hannu, Palotie, Aarno, Aaltonen, Lauri, Yang, Yaping, Potocki, Lorraine, Moilanen, Jukka, van Koningsbruggen, Silvana, Wang, Xia, Schmidt, Wolfgang M., Koivunen, Peppi, Uusimaa, Johanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774999/
https://www.ncbi.nlm.nih.gov/pubmed/30940925
http://dx.doi.org/10.1038/s41436-019-0503-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774999/
https://www.ncbi.nlm.nih.gov/pubmed/30940925
http://dx.doi.org/10.1038/s41436-019-0503-4

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