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Article

Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.

Human molecular genetics - 23 Mar 2026

Kaprio Laura, Kiukkonen Anu, Juuri Emma, Rice David P, Ollila Hanna M, Strausz Satu

Abstract excerpt

Craniofacial microsomia (CFM) encompasses a phenotypic continuum of congenital anomalies ranging from isolated microtia to more complex manifestations within the oculo-auriculo-vertebral spectrum, including Goldenhar syndrome, reflecting abnormal development of first and second pharyngeal arch-derived structures. While several genetic susceptibility loci have been reported, population-based evidence in...

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Identifiers

PMID: 41955302
DOI: 10.1093/hmg/ddag020
PMCID: PMC13064855

Genes

ROBO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.PMID 41955302Read ↗

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