نتایج جستجو برای: rubinstein taybi syndrome

تعداد نتایج: 622694  

Journal: :Journal of Medical Genetics 1975

Journal: :The Journal of Clinical Endocrinology & Metabolism 1997

Journal: :THE PROFESSIONAL MEDICAL JOURNAL 2016

Journal: :South African Journal of Child Health 2014

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Arquivos de neuro-psiquiatria 2014
Carolina Candeias da Silva José Luiz Pedroso Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Orlando Graziani Povoas Barsottini

A 30-year-old man presented to our hospital with developmental delay, recurrent respiratory infections and short stature. Examination showed broad thumbs and hallux, beaked nose and big toes. Rubinstein-Taybi syndrome (RTS) was diagnosed based on typical clinical features. RTS was described by Rubinstein and Taybi in 19631. They reported a patient with big toes, craniofacial ab nor ma lities an...

Journal: :The Tohoku Journal of Experimental Medicine 1971

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