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Article

A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.

Clinical genetics - 1 Dec 2016

Wang Y, Koh K, Ichinose Y, Yasumura M, Ohtsuka T, Takiyama Y

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27633718
DOI: 10.1111/cge.12851

Genes

NALCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.PMID 27633718Read ↗

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental DelaySemantic proximity Read ↗

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De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.Semantic proximity Read ↗

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