Congenital immobility and stiffness related to biallelic ATAD1 variants

OBJECTIVE: To delineate the phenotype associated with biallelic ATAD1 variants. METHODS: We describe 2 new patients with ATAD1-related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients. RESULTS: Patients 1 and 2 had a similar distinctive phenotype compri...

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Vydáno v:Neurol Genet
Hlavní autoři: Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie, Léger, Pierre-Louis, Kieffer, François, Martin, Isabelle, Héron, Delphine, Buratti, Julien, Isapof, Arnaud, Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7577533/
https://ncbi.nlm.nih.gov/pubmed/33134516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000520
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