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Dokumenttyp:
journal article 
Autor(en):
Dreßen, Martina; Lahm, Harald; Lahm, Armin; Wolf, Klaudia; Doppler, Stefanie; Deutsch, Marcus-André; Cleuziou, Julie; Pabst von Ohain, Jelena; Schön, Patric; Ewert, Peter; Malcic, Ivan; Lange, Rüdiger; Krane, Markus 
Titel:
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function. 
Abstract:
The Holt-Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15-month-old patient being investigated for strict diagnostic criteria of HOS.Genetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents. TBX5 belongs to the large family of T-box transcription factors playing...    »
 
Zeitschriftentitel:
Mol Genet Genomic Med 
Jahr:
2016 
Band / Volume:
Heft / Issue:
Seitenangaben Beitrag:
557-67 
Sprache:
eng 
TUM Einrichtung:
Klinik für Kinderkardiologie und angeborene Herzfehler