Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders.

Authors: Dell'Edera, Domenico, Debellis, Lucantonio, Mitidieri, Angela, Anna Epifania, Annunziata, Cuscianna, Eustachio, Allegretti, Arianna

Source: Clinical Case Reports; Mar2020, Vol. 8 Issue 3, p539-544, 6p

Subject Terms: BRAF genes, GENETIC mutation, SYMPTOMS, SYNDROMES, DISEASES

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Authors: Dell'Edera, Domenico, Allegretti, Arianna, Ventura, Mario, Mercuri, Ludovica, Mitidieri, Angela, Cuscianna, Giacinto, Epifania, Annunziata Anna, Morizio, Elisena, Alfonsi, Melissa, Guanciali-Franchi, Paolo

Source: Journal of Medical Case Reports; 4/21/2021, Vol. 15 Issue 1, p208-208, 1p