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Article

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

American journal of medical genetics. Part A - 1 Mar 2014

Shimizu Kenji, Wakui Keiko, Kosho Tomoki, Okamoto Nobuhiko, Mizuno Seiji, Itomi Kazuya, Hattori Shigeto, Nishio Kimio, Samura Osamu, Kobayashi Yoshiyuki, Kako Yuko, Arai Takashi, Tsutomu Oh-ishi, Kawame Hiroshi, Narumi Yoko, Ohashi Hirofumi, Fukushima Yoshimitsu

Abstract excerpt

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have previously been published, several important issues remain to be elucidated including seizure severity. We present detailed clinical and molecular-cytogenetic...

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Identifiers

PMID: 24357569
DOI: 10.1002/ajmg.a.36308

Genes

CPLX1
CTBP1
LETM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.PMID 24357569Read ↗

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