Article
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Jan 2000
Al-Haggar Mohammad, Bakr Ashraf, Wahba Yahya, Coucke Paul J, El-Hussini Fatma, Hafez Mona, Eid Riham, Eid Abdel-Rahman, Sarhan Amr, Shaltout Ali, Hammad Ayman, Yahia Sohier, El-Rifaie Ahmad, Abdel-Hadi Dina
Abstract excerpt
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in...
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