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

Abstract Background Variants in the CASK gene result in a wide range of observed phenotypes in humans, such as FG Syndrome 4 and intellectual disabilities. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder that affects female...

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Wedi'i Gadw mewn:
Prif Awduron: Sixian Wu, Chuan Jiang, Jiaman Li, Guohui Zhang, Ying Shen, Jing Wang
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2022-06-01
Cyfres:BMC Medical Genomics
Pynciau:
Case report
MICPCH
CASK
Missense variant
Protein structure
Mynediad Ar-lein:https://doi.org/10.1186/s12920-022-01275-z
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