A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24
نویسندگان
چکیده
منابع مشابه
[Chronic intestinal pseudo-obstruction].
Chronic intestinal pseudo-obstruction (CIPO) is a syndrome characterized by the presence of recurrent episodes of clinical intestinal obstruction in the absence of obstructive lesions. Although this syndrome is rare, it causes a high morbidity. It is caused by a disturbance of the intestinal motility, that results in a failure of the progression of the intestinal content. Basically, the failure...
متن کاملClinical characteristics of chronic idiopathic intestinal pseudo-obstruction in adults.
BACKGROUND Chronic idiopathic intestinal pseudo-obstruction, a syndrome of ineffectual motility due to a primary disorder of enteric nerve or muscle, is rare. AIMS To determine the clinical spectrum, underlying pathologies, response to treatments, and prognosis in a consecutive unselected group of patients. METHODS Cross sectional study of all patients with clinical and radiological feature...
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To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of th...
متن کاملA novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.
BACKGROUND Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 51 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. OBJECTIVE To investigate the genes involved in a Dutch family with NSSHL. METHODS Linkage analysis in a large Dutch pedigree with progressive bilateral loss of the...
متن کاملA novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.
BACKGROUND Non-syndromic hearing loss is among the most genetically heterogeneous traits known in humans. To date, at least 50 loci for autosomal dominant non-syndromic sensorineural hearing loss (ADNSSHL) have been identified by linkage analysis. OBJECTIVE To report the mapping of a novel autosomal dominant deafness locus on the long arm of chromosome 14 at 14q11.2-q12, DFNA53, in a large mu...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2007
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201844