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Article

Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum.

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

Parma Barbara, Cianci Paola, Decimi Valentina, Mariani Milena, Provero Maria Cristina, Funari Caterina, Tajè Silvia, Apuril Erika, Cereda Anna, Panceri Roberto, Maitz Silvia, Fossati Chiara, Selicorni Angelo

Abstract excerpt

Cornelia de Lange syndrome Spectrum (CdLSp) is characterized by intellectual disability, facial dysmorphisms, and growth impairment. Although eating difficulties are a well-known feature of the disease, there is no data regarding the nutritional deficiencies of these patients. The food intake was tracked using a dietary transcription provided by the family/caregivers, biochemical nutritional parameters were...

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PMID: 32648352
DOI: 10.1002/ajmg.a.61749

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