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Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes

Holt–Oram syndrome (HOS) features radial ray hypoplasia, heart defect and cardiac conduction impairment. Ulnar-mammary syndrome (UMS) characterizes congenital defects of the ulnar side of the upper limbs, underdevelopment of apocrine glands including hypoplasia and the dysfunction of mammary glands,...

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Detalles Bibliográficos
Autores principales: Iwanicka-Pronicka, Katarzyna, Socha, Magdalena, Jędrzejowska, Maria, Krajewska-Walasek, Małgorzata, Jamsheer, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031565/
https://www.ncbi.nlm.nih.gov/pubmed/27722056
http://dx.doi.org/10.1186/s40064-016-3275-1