Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

BACKGROUND: Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Cytogenet
Prif Awduron: Genesio, Rita, Mormile, Angela, Licenziati, Maria Rosaria, De Brasi, Daniele, Leone, Graziella, Balzano, Sara, Izzo, Antonella, Bonfiglio, Ferdinando, Conti, Anna, Fioretti, Gennaro, Lenta, Selvaggia, Poggiano, Maria Rita, Siani, Paolo, Nitsch, Lucio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2015
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501070/
https://ncbi.nlm.nih.gov/pubmed/26175800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0154-3
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