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...

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Dades bibliogràfiques
Publicat a:Int J Pediatr Endocrinol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Case Report
Accés en línia: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
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