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Article

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

BMC medical genetics - 7 Jan 2017

Blanco-Kelly Fiona, Rodrigues-Jacy da Silva Luciana, Sanchez-Navarro Iker, Riveiro-Alvarez Rosa, Lopez-Martinez Miguel Angel, Corton Marta, Ayuso Carmen

Abstract excerpt

BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. CASE PRESENTATION: A Spanish male born in 1998 from non-consanguineous healthy parents with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28061825
DOI: 10.1186/s12881-016-0364-5
PMCID: PMC5219735

Genes

CDH3
ABCA4

Variants

Provenance

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

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New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.PMID 28061825Read ↗

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Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencingSemantic proximity Read ↗

A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.Semantic proximity Read ↗

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