منابع مشابه
Molecular Genetics and Epidemiology of Vitiligo
Background: Vitiligo is an acquired, idiopathic, and common depigmentation disorder of the skin that affects people of all ages and both sexes equally in the worldwide. Although etiology of the disease is unknown, there are theories such as environment and genetic factors. Methods: In this article, we collected and summarized the appropriate manuscripts regarding the epidemiology and gene...
متن کاملGenetics of microtia and associated syndromes.
Microtia is a congenital anomaly, characterised by a small, abnormally shaped auricle (pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can occur as the only clinical abnormality or as part of a syndrome. The estimated prevalence of microtia is 0.8-4.2 per 10 000 births, and it is more common in men. Microtia can have a genetic or environmental predisposition...
متن کاملEpidemiology and genetics of microtia-anotia: a registry based study on over one million births.
The epidemiology and genetics of microtia-anotia (M-A) were studied using data collected from the Italian Multicentre Birth Defects Registry (IPIMC) from 1983 to 1992. Among 1,173, 794 births, we identified 172 with M-A, a rate of 1.46/10,000; 38 infants (22.1%) had anotia. Of the 172 infants, 114 (66.2%) had an isolated defect, 48 (27.9%) were multiformed infants (MMI) with M-A, and 10 (5.8%) ...
متن کاملThe epidemiology of anotia and microtia.
We studied a large data set from three registries of congenital malformations (central-east France, Sweden, and California), a total of 954 cases, known chromosome anomalies excluded. The prevalence at birth varied significantly between programmes, probably to a large extent because of different ascertainment and inclusion criteria, from 0.76 per 10,000 births in the French programme to 2.35 in...
متن کاملCharcot–Marie–Tooth disease: Genetics, epidemiology and complications
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2011
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34352