Zoya Shaikh

Written by: Zoya Shaikh Masters in Biomedical Sciences (Biochemistry & Molecular Biology) – MSc, Sultan Qaboos University, Oman Reviewed by: Sarah Hao Bachelor of Medicine, Bachelor of Surgery - MBBS, University of Adelaide Introduction to chediak-higashi syndrome It is an autosomal recessive disorder, characterised by: Albinism affects the colour of the eyes, the skin, and the hair, also known as oculocutaneous albinism Easy bruising Abnormal functions of the natural killer cells...

Written by: Zoya Shaikh Masters in Biomedical Sciences (Biochemistry & Molecular Biology) – MSc, Sultan Qaboos University, Oman Reviewed by: Scarlett Ainsworth Bachelor of Science in Biomedical Science Introduction Different parts of the body, including the heart, face, skin, and hair, are affected by Cardiofaciocutaneous (CFC) syndrome. Individuals with this disorder may also suffer from intellectual disability and developmental delay.

Danon Disease In Female Carriers: From Asymptomatic To Severe Cardiomyopathy Cardiovascular / Cardiology,Muscular Dystrophy / ALS,Rare Diseases / Genetic Conditions Published on: October 15, 2025 Written by: Zoya Shaikh Masters in Biomedical Sciences (Biochemistry & Molecular Biology) – MSc, Sultan Qaboos University, Oman Reviewed by: Jannatjot Kaur Sandhu Chemistry with management student at University college London Introduction Danon disease is a lysosomal storage disorder (LSD).