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A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies

OBJECTIVE: To report a novel mutation found in a family with hand-foot-genital syndrome (HFGS). To characterize the genetic basis of true HFGS versus presence of non-HFGS-related uterovaginal septa. DESIGN: Case-control study. SETTING: Academic medical center. PATIENT(S): HFGS patients and family me...

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Autori principali: Jorgensen, Elisa M., Ruman, Jane I., Doherty, Leo, Taylor, Hugh S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2889242/
https://ncbi.nlm.nih.gov/pubmed/19591980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.fertnstert.2009.05.057
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