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Article

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.

European journal of human genetics : EJHG - 1 Aug 2017

Merello Elisa, Tattini Lorenzo, Magi Alberto, Accogli Andrea, Piatelli Gianluca, Pavanello Marco, Tortora Domenico, Cama Armando, Kibar Zoha, Capra Valeria, De Marco Patrizia

Abstract excerpt

Chiari malformation type I (CMI) is a congenital abnormality of the cranio-cerebral junction with an estimated incidence of 1 in 1280. CMI is characterized by underdevelopment of the occipital bone and posterior fossa (PF) and consequent cerebellar tonsil herniation. The presence for a genetic basis to CMI is supported by many lines of evidence. The cellular and molecular mechanisms leading to CM1 are poorly...

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Identifiers

PMID: 28513615
DOI: 10.1038/ejhg.2017.71
PMCID: PMC5567145

Genes

DKK1
LRP4
BMP1
LRP5
LRP6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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