Marfan syndrome in South Africa: a molecular genetic approach to diagnosis.
نویسندگان
چکیده
To the Editor: Marfan syndrome (MFS) (MIM 154700) is a heritable disorder of connective tissue characterised by excessive height and limb length disproportion, together with ocular, cardiovascular and skeletal manifestations. The condition is an autosomal dominant trait, and can be transmitted from generation to generation with variable severity. The determinant gene FBN1 is situated at the chromosomal locus 15q21.1 and codes for the protein fibrillin-1.1
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عنوان ژورنال:
- South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
دوره 97 9 شماره
صفحات -
تاریخ انتشار 2007