Genetic testing for Hennekam syndrome

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Hennekam Syndrome: A Case Report

Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Henn...

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ژورنال

عنوان ژورنال: The EuroBiotech Journal

سال: 2018

ISSN: 2564-615X

DOI: 10.2478/ebtj-2018-0027