Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14
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منابع مشابه
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.
T elangiectases are characterised by an abnormal permanent dilatation of end vessels—mainly venules but occasionally also capillaries and arterioles—in the subpapillary plexus in the upper part of the dermis. Hereditary benign telangiectasia (HBT; OMIM 187260) is a rare genetic skin disorder classified among the primary or idiopathic telangiectases. Affected individuals present with widespread ...
متن کاملLETTER TO JMG Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14
T elangiectases are characterised by an abnormal permanent dilatation of end vessels—mainly venules but occasionally also capillaries and arterioles—in the subpapillary plexus in the upper part of the dermis. Hereditary benign telangiectasia (HBT; OMIM 187260) is a rare genetic skin disorder classified among the primary or idiopathic telangiectases. Affected individuals present with widespread ...
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Patients with hereditary haemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) have variable presentation patterns and a high risk of preventable complications. Diagnostic tests for mutations in endoglin (HHT type 1) and ALK-1 (HHT type 2) are available. Some HHT patients are now known to have HHT-juvenile polyposis overlap syndrome due to Smad4 mutations. Families were ascertained f...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.11.849