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Article

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

1 Aug 1996

Abstract excerpt

From studies in the mouse and from the clinical and molecular analysis of patients with type 1 Waardenburg syndrome, particular members of the PAX gene family are suspected factors in the aetiology of human neural tube defects (NTD). To investigate the role of PAX1, PAX3, PAX7, and PAX9, allelic association studies were performed in 79 sporadic and 38 familial NTD patients from the Dutch population. Sequence...

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Identifiers

PMID: 8863157
DOI: 10.1136/jmg.33.8.655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.PMID 8863157Read ↗

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Testing for genetic associations with the PAX gene family in a spina bifida population.Semantic proximity Read ↗

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.Semantic proximity Read ↗

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.Semantic proximity Read ↗

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.Semantic proximity Read ↗

Two different PAX3 gene mutations causing Waardenburg syndrome type I.Semantic proximity Read ↗

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.Semantic proximity Read ↗

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?Semantic proximity Read ↗

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.Semantic proximity Read ↗

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.Semantic proximity Read ↗

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