Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

Abstract

Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails and… (More)
DOI: 10.1002/ajmg.a.35913

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