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Article

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

Human mutation - 1 Jul 2016

McInerney-Leo Aideen M, Harris Jessica E, Gattas Michael, Peach Elizabeth E, Sinnott Stephen, Dudding-Byth Tracy, Rajagopalan Sulekha, Barnett Christopher P, Anderson Lisa K, Wheeler Lawrie, Brown Matthew A, Leo Paul J, Wicking Carol, Duncan Emma L

Abstract excerpt

Fryns syndrome is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal digital hypoplasia, and other associated malformations, and is the most common syndromic form of CDH. No gene has been associated with this condition. Whole-exome sequence data from two siblings and three unrelated individuals with Fryns syndrome were filtered for rare,...

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Identifiers

PMID: 27038415
DOI: 10.1002/humu.22994

Genes

PIGN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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