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A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt–Oram syndrome

We report a case of a 31-year-old pregnant woman who was admitted to our perinatology outpatient clinic because of a fetal ventricular septal defect and limb reduction in the upper extremities of fetus revealed by ultrasonographic investigation diagnosed in the 16(th) week of gestation. First child...

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Detalhes bibliográficos
Publicado no:J Turk Ger Gynecol Assoc
Main Authors: Ersoy, Ali Özgür, Topçu, Vehap, Kale, İbrahim, Ersoy, Ebru, Özler, Sibel, Danışman, Nuri
Formato: Artigo
Idioma:Inglês
Publicado em: AVES 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4794294/
https://ncbi.nlm.nih.gov/pubmed/27026770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/jtgga.2015.15233
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