EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types
نویسندگان
چکیده
منابع مشابه
Autosomal recessive ataxias: 20 types, and counting.
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number...
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Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility tha...
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Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site muta...
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Four sibs of non-consanguineous parents who had myotonia from late infancy are described. Mild to moderate mental retardation, severe bone abnormalities of the vertebral column (mainly in the thoracolumbar region), and short stature were also observed. Autosomal recessive inheritance is demonstrated. These cases are compared with reported cases of the Schwartz-Jampel syndrome.
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much better for the author to have selected fewer topics for inclusion in the book, and to have given each one a more thorough treatment. Other subjects which are scantily covered include evidence for a myopia gene, existence of an alcoholism gene, genetic transmission of psychotic tendency, relation of creativity to the schizophrenia gene, and inherited personality and creative aptitude. As ca...
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ژورنال
عنوان ژورنال: Journal of the Royal Society of Medicine
سال: 1980
ISSN: 0141-0768,1758-1095
DOI: 10.1177/014107688007300305