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MINERVINO , Daniele

Last name: MINERVINO

First name: Daniele

2021 (v1)

Publication

Metadata-only

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

Tannorella, Pierpaola Minervino, Daniele Guzzetti, Sara

Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine-Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in...

Uploaded on: April 14, 2023