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Four cases of myotonia congenita in a Turkish family
Myotonia Thomsens disease autosomal dominant inheritance
2010/2/24
Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless myotonia. A 44-year-old mother presented at our clinic with ...
"Trichorhinophalangeal Syndrome Type I":A Turkish Case
Cone-shaped epiphysis dysplasia trichorhinophalangeal syndrome type I
2009/6/24
Trichorhinophalangeal syndrome type I (TRPS I) is a rare complex genetic disorder characterized by sparse, slow growing hair, a bulbous pear-shaped nose, clinobrachydactyly and radiographically cone-s...
Identification of a Novel Frameshift Mutation [Codon 3 (+T)] in a Turkish Patient with b-Thalassemia Intermedia
b-thalassemia b-globin gene insertion frameshift mutation DNA sequencing
2009/6/22
b-Thalassemia, one of the most widespread genetic diseases in the world, is an autosomal recessive disease generally caused by point mutations in the b-globin gene that is located as a cluster on the ...