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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,...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2016
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| 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 |