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Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
1 Section on Epigenetics and Development, National Institute of Child Health and Human Development, Bethesda, Maryland, USA 2 Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood ...
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New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
Correspondence to: Dr Virginia Nunes Centre de Genética Mèdica i Molecular (IRO-IDIBELL), Hospital Duran i Reynals, Gran Via Km 2.7, s/n, L’Hospitalet de Llobregat, Barcelona E-08907, Spain; vnunesiro ...
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Wolfram syndrome: a clinical and molecular genetic analysis
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