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ALONSO LUENGO , Olga

Last name: ALONSO LUENGO

First name: Olga

June 16, 2021 (v1)

Publication

Metadata-only

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

Sánchez, Javier Peciña, Ana Alonso Luengo, Olga

Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a...

Uploaded on: December 4, 2022