A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Wu, Sixian ; Jiang, Chuan ; Li, Jiaman ; Zhang, Guohui ; Shen, Ying ; Wang, Jing

BMC medical genomics, 2022-06, Vol.15 (1), p.127-127, Article 127 [Periódico revisado por pares]

England: BioMed Central Ltd

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