1 results match your criteria: "St George's University London - University of Nicosia[Affiliation]"
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
Clin Dysmorphol
April 2017
aDepartment of Clinical Genetics, Makarios Medical Centre, The Cyprus Institute of Neurology and Genetics bDivision of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics cDepartment of Paediatrics, Medical School, St George's University London - University of Nicosia, Nicosia, Cyprus.
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation.
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