X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

BACKGROUND: Premature ovarian failure (POF) has repeatedly been associated to X-chromosome deletions. FMR1 gene premutation allele's carrier women have an increased risk for POF. We intent to determine the cause of POF in a 29 year old female, evaluating both of these situations. METHODS: Conco...

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Detalles Bibliográficos
Autores principales: Ferreira, Susana I, Matoso, Eunice, Pinto, Marta, Almeida, Joana, Liehr, Thomas, Melo, Joana B, Carreira, Isabel M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2916005/
https://www.ncbi.nlm.nih.gov/pubmed/20646274
http://dx.doi.org/10.1186/1755-8166-3-14

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