Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

doi:10.1002/ajmg.a.61735

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Article

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

American journal of medical genetics. Part A - 1 Sept 2020

Suter Aude-Annick, Santos-Simarro Fernando, Toerring Pernille Mathiesen, Abad Perez Angela, Ramos-Mejia Rosario, Heath Karen E, Huckstadt Victoria, Parrón-Pajares Manuel, Mensah Martin Atta, Hülsemann Wiebke, Holtgrewe Manuel, Mundlos Stefan, Kornak Uwe, Bartsch Oliver, Ehmke Nadja

Abstract excerpt

Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The...

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PMID: 32592542
DOI: 10.1002/ajmg.a.61735

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

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