Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. [electronic resource]
Producer: 20140219Description: 721-6 p. digitalISSN:- 1537-6605
- Abnormalities, Multiple -- genetics
- Adolescent
- Child
- Child, Preschool
- Codon, Nonsense
- Craniofacial Abnormalities
- Exome
- Facies
- Female
- Genes, Recessive -- genetics
- Genetic Linkage
- Genetic Predisposition to Disease
- Humans
- Intellectual Disability -- genetics
- Ion Channels
- Male
- Membrane Proteins
- Muscle Hypotonia -- genetics
- Muscular Atrophy -- genetics
- Mutation, Missense
- Pedigree
- Polymorphism, Single Nucleotide
- Sodium Channels -- genetics
- Speech Disorders -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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