A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

BACKGROUND: Xq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X. Sometimes short stature and diminished ovarian reserve (DOR) may be present. Treatments with rGH (Recombinant growth Hormon) or with fertil...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Int J Pediatr Endocrinol
Main Authors: Parissone, Francesca, Pucci, Mairi, Meneghelli, Emanuela, Zuffardi, Orsetta, Di Paola, Rossana, Zaffagnini, Stefano, Franchi, Massimo, Santangelo, Elisabetta, Cantalupo, Gaetano, Cavarzere, Paolo, Antoniazzi, Franco, Piacentini, Giorgio, Gaudino, Rossella
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6953468/
https://ncbi.nlm.nih.gov/pubmed/31938033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-019-0071-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados