Article
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
American journal of medical genetics. Part A - 1 Aug 2016
Mozzillo Enza, Cozzolino Carla, Genesio Rita, Melis Daniela, Frisso Giulia, Orrico Ada, Lombardo Barbara, Fattorusso Valentina, Discepolo Valentina, Della Casa Roberto, Simonelli Francesca, Nitsch Lucio, Salvatore Francesco, Franzese Adriana
Abstract excerpt
In childhood, several rare genetic diseases have overlapping symptoms and signs, including those regarding growth alterations, thus the differential diagnosis is sometimes difficult. The proband, aged 3 years, was suspected to have Silver-Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, and bilateral fifth...
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