Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site var...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Klaassens, Merel, Morrogh, Deborah, Rosser, Elisabeth M, Jaffer, Fatima, Vreeburg, Maaike, Bok, Levinus A, Segboer, Tim, van Belzen, Martine, Quinlivan, Ros M, Kumar, Ajith, Hurst, Jane A, Scott, Richard H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402637/
https://ncbi.nlm.nih.gov/pubmed/25118028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.162
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