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Article

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.

Journal of medical genetics - 1 Sept 2005

Slavotinek A, Lee S S, Davis R, Shrit A, Leppig K A, Rhim J, Jasnosz K, Albertson D, Pinkel D

Abstract excerpt

BACKGROUND: Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients with CDH and renders the correct diagnosis critical for accurate genetic counselling. The cause...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16141010
DOI: 10.1136/jmg.2004.028787
PMCID: PMC1736126

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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