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Article

Genetic Landscape of Robin Sequence: A Systematic Review.

Clinical genetics - 1 Feb 2026

van de Velde Shirley, Mink van der Molen Aebele B, Lachmeijer Augusta M A, de Leijer Daan, Smits Jeroen J, Massink Maarten P G, Versnel Sarah L, van den Boogaard Marie-José H, Paes Emma C

Abstract excerpt

Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction, often occurring with cleft palate and syndromic conditions. The genetic basis of RS is heterogeneous, including monogenic variants and chromosomal rearrangements. This systematic review synthesizes the current genetic landscape of RS, analyzing data from 107 studies that employed various...

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Source

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Identifiers

PMID: 41077824
DOI: 10.1111/cge.70088
PMCID: PMC12779227

Genes

COL11A1
COL2A1
RBM10
SATB2
SNRPB
SOX9
TGDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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