Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies

BACKGROUND: Mutations of SHOX represent the most frequent monogenic cause of short stature and related syndromes. The genetic alterations include point mutations and deletions/duplications spanning both SHOX and its regulatory regions, although microrearrangements are confined to either the downstre...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Monzani, Alice, Babu, Deepak, Mellone, Simona, Genoni, Giulia, Fanelli, Antonella, Prodam, Flavia, Bellone, Simonetta, Giordano, Mara
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6327496/
https://ncbi.nlm.nih.gov/pubmed/30626445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0445-8
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados