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Article

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Human molecular genetics - 15 Apr 2018

Ufartes Roser, Schwenty-Lara Janina, Freese Luisa, Neuhofer Christiane, Möller Janika, Wehner Peter, van Ravenswaaij-Arts Conny M A, Wong Monica T Y, Schanze Ina, Tzschach Andreas, Bartsch Oliver, Borchers Annette, Pauli Silke

Abstract excerpt

CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29432577
DOI: 10.1093/hmg/ddy045

Genes

CHD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Sema3a plays a role in the pathogenesis of CHARGE syndrome.PMID 29432577Read ↗

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