Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
COASY 中的双等位基因功能丧失变异导致产前发病的小脑桥脑发育不全、小头畸形和关节弯曲
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-018-0233-0
Tessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, Mariëlle Alders, Inge B Mathijssen, Jillian S Parboosingh, A Micheil Innes, Hanne Meijers-Heijboer, Bwee Tien Poll-The, Francois P Bernier, Ronald J A Wanders, Ryan E Lamont, Frank Baas