Journal of Gastrointestinal & Digestive System
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Mostafa Helmi Abdulaziz
Biography
Dr Mostafa Helmi did his MBBS in Egypt. Also he did Diploma in Child Health at Royal College of Paediatrics and Child Health in London, In 2002 he undergone training Course in Paediatric Respiratory Medicine at Department of Child Health with Professor John Price, King’s College Hospital, London.Publications
Chediak-Higashi Syndrome with Novel Gene Mutation
Chediak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. This syndrome is caused by mutations in the CHS1/LYST gene located on chromosome 1. It leads to abnormal intracellular protein transport and alters lysosomes granules function and morphology. Herein, we report a case of CHS. This two-and-hal... Read More»
Case Report: J Gastrointest Dig Syst 2016, 6: 463
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