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Article

Sonic hedgehog mutation analysis in patients with VACTERL association.

American journal of medical genetics. Part A - 1 Mar 2010

Aguinaga Mónica, Zenteno Juan Carlos, Pérez-Cano Héctor, Morán Verónica

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Share to Abnormalities, Multiple
Share to Anus, Imperforate
Share to Heart Defects, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20186790
DOI: 10.1002/ajmg.a.33293

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Related research

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Research trail→

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Sonic hedgehog mutation analysis in patients with VACTERL association.PMID 20186790Read ↗

Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathwaySemantic proximity Read ↗

The VACTERL association: lessons from the Sonic hedgehog pathway.Semantic proximity Read ↗

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signalingSemantic proximity Read ↗

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.Semantic proximity Read ↗

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.Semantic proximity Read ↗

Human developmental disorders and the Sonic hedgehog pathwaySemantic proximity Read ↗

Evidence for inheritance in patients with VACTERL associationSemantic proximity Read ↗

Identification of a HOXD13 mutation in a VACTERL patient.Semantic proximity Read ↗

Pathways and consequences: Hedgehog signaling in human diseaseSemantic proximity Read ↗

PCSK5 mutation in a patient with the VACTERL association.Semantic proximity Read ↗

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.Semantic proximity Read ↗

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.Semantic proximity Read ↗

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