Chitayat syndrome

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene
M Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, A M Wenger, D L Sureka, T Lester, D S Johnson, J Bowen, A R Calhoun, D H Viskochil, DDD Study, G Bejerano, J A Bernstein, D Chitayat

Journal of Medical Genetics Mar 2017, 54 (3) 157-165; DOI: 10.1136/jmedgenet-2016-104143

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Chitayat syndrome