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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Publicado en:J Med Genet
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: 2020
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Article
Acceso en línea: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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