Article
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
American journal of medical genetics. Part A - 1 Jan 2016
Cavalleri Valeria, Bettini Laura R, Barboni Chiara, Cereda Anna, Mariani Milena, Spinelli Marco, Gervasini Cristina, Russo Silvia, Biondi Andrea, Jankovic Momcilo, Selicorni Angelo
Abstract excerpt
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in the cohesion complex and its regulators. The syndrome is characterized by multiple organ system abnormalities, pre- and post-natal growth retardation and typical facial features. Thrombocytopenia is a reduction in platelet count to <150 × 10(9) L. It can be caused by congenital or acquired decreased production, increased...
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