Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

BACKGROUND: Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous and have traditionally been refractive to genetic diagnosis. The widespread availability of affordable genome-wide sequencing has facilitated accurate genetic diagnosis and gene discovery in these conditions....

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Publicat a:J Med Genet
Autors principals: Ravenscroft, Gianina, Clayton, Joshua S, Faiz, Fathimath, Sivadorai, Padma, Milnes, Di, Cincotta, Rob, Moon, Phillip, Kamien, Ben, Edwards, Matt, Delatycki, Martin, Lamont, Phillipa J, Chan, Sophelia HS, Colley, Alison, Ma, Alan, Collins, Felicity, Hennington, Lucinda, Zhao, Teresa, McGillivray, George, Ghedia, Sondhya, Chao, Katherine, O’Donnell-Luria, Anne, Laing, Nigel G, Davis, Mark R
Format: Artigo
Idioma:Inglês
Publicat: 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8328565/
https://ncbi.nlm.nih.gov/pubmed/33060286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-106901
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