Article
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.
Ginekologia polska - 1 Jan 2016
Walencka Zofia, Jamsheer Aleksander, Surmiak Piotr, Baumert Małgorzata, Jezela-Stanek Aleksandra, Witek Andrzej, Materna-Kiryluk Anna, Latos-Bieleńska Anna, Socha Magdalena, Sowińska-Seidler Anna
Abstract excerpt
OBJECTIVES: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination. MARETIAL AND METHODS: Nine family members were tested for TBX5 gene mutation. RESULTS:...
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