Llwytho...

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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Pediatr
Prif Awduron: Laccetta, Gianluigi, Moscuzza, Francesca, Michelucci, Angela, Guzzetta, Andrea, Lunardi, Sara, Lorenzoni, Francesca, Ghirri, Paolo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2017
Pynciau:
Mynediad Ar-lein: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
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