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Article

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

European journal of medical genetics - 1 Oct 2014

Ansari Morad, Rainger Jacqueline K, Murray Jennie E, Hanson Isabel, Firth Helen V, Mehendale Felicity, Amiel Jeanne, Gordon Christopher T, Percesepe Antonio, Mazzanti Laura, Fryer Alan, Ferrari Paola, Devriendt Koenraad, Temple I Karen, FitzPatrick David R

Abstract excerpt

Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the region as a candidate for the PRS component of the phenotype. Clinical array-based comparative genome hybridisation (aCGH) data were used to define a 2.08 Mb...

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Identifiers

PMID: 25195018
DOI: 10.1016/j.ejmg.2014.08.007

Genes

FBN2
PHAX

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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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