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

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

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...

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Bibliographic Details
Main Authors: Pierpaola Tannorella, Daniele Minervino, Sara Guzzetti, Alessandro Vimercati, Luciano Calzari, Giuseppa Patti, Mohamad Maghnie, Anna Elsa Maria Allegri, Donatella Milani, Giulietta Scuvera, Milena Mariani, Piergiorgio Modena, Angelo Selicorni, Lidia Larizza, Silvia Russo
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
Silver Russell
growth disorder
epigenetic deregulation
rare mechanisms
UPD(20)mat
Mulchandani–Bhoj–Conlin syndrome
Online Access:https://www.mdpi.com/2073-4425/12/4/588

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