Ładuje się......

A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th–50th centiles; length 50...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Front Pediatr
Główni autorzy: Laccetta, Gianluigi, Moscuzza, Francesca, Michelucci, Angela, Guzzetta, Andrea, Lunardi, Sara, Lorenzoni, Francesca, Ghirri, Paolo
Format: Artigo
Język:Inglês
Wydane: Frontiers Media S.A. 2017
Hasła przedmiotowe:
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5681921/
https://ncbi.nlm.nih.gov/pubmed/29164086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00236
Etykiety: Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!