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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tannorella, Pierpaola, Minervino, Daniele, Guzzetti, Sara, Vimercati, Alessandro, Calzari, Luciano, Patti, Giuseppa, Maghnie, Mohamad, Allegri, Anna Elsa Maria, Milani, Donatella, Scuvera, Giulietta, Mariani, Milena, Modena, Piergiorgio, Selicorni, Angelo, Larizza, Lidia, Russo, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073552/
https://www.ncbi.nlm.nih.gov/pubmed/33920573
http://dx.doi.org/10.3390/genes12040588

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073552/
https://www.ncbi.nlm.nih.gov/pubmed/33920573
http://dx.doi.org/10.3390/genes12040588

Ejemplares similares