Article
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Journal of medical genetics - 1 Mar 2017
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger A M, Sureka D L, Lester T, Johnson D S, Bowen J, Calhoun A R, Viskochil D H, Bejerano G, Bernstein J A, Chitayat D
Abstract excerpt
BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. OBJECTIVES: To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause...
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