Open AccessNeurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Author(s) -
Gianina Ravenscroft,
Joshua S. Clayton,
Fathimath Faiz,
Padma Sivadorai,
Di Milnes,
Rob Cincotta,
Phillip Moon,
Ben Kamien,
Matthew Edwards,
Martin B. Delatycki,
Phillipa Lamont,
Sophelia H.S. Chan,
Alison Colley,
Alan Ma,
Felicity Collins,
Lucinda Hennington,
Teresa Zhao,
George McGillivray,
Sondhya Ghedia,
Katherine R. Chao,
Anne O’Donnell-Luria,
Nigel G. Laing,
Mark Davis
Publication year - 2020
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2020-106901
Subject(s) - arthrogryposis , arthrogryposis multiplex congenita , genetics , exome sequencing , biology , proband , medical genetics , genomics , exome , bioinformatics , phenotype , gene , genome , mutation
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.