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Article

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

12 Feb 2015

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25683120
DOI: 10.1016/j.ajhg.2015.01.003

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental DelayPMID 25683120Read ↗

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

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

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.Semantic proximity Read ↗

A Novel Missense Mutation in NALCN cause CLIFAHDD Syndrome and Prenatal Diagnosis in ChinaSemantic proximity Read ↗

Muscle biopsy findings in a child with NALCN gene mutation.Semantic proximity Read ↗

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.Semantic proximity Read ↗

A Novel Missense Mutation in NALCN Cause CLIFAHDD Syndrome and Prenatal Diagnosis in ChinaSemantic proximity Read ↗

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Semantic proximity Read ↗

Genotype-Phenotype Landscape of NALCN and UNC80 -Related DisordersSemantic proximity Read ↗

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.Semantic proximity Read ↗

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.Semantic proximity Read ↗

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.Semantic proximity Read ↗

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