B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?
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چکیده
منابع مشابه
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
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larsen syndrome is a skeletal dysplasia (osteochondro-dysplasia) in which multiple dislocations of the large joints are the major feature . nosology in this group of disease, which constitutes 8% of mendelian disorders in man, is primarily based on clinical and radiological features. the underlying genetic defect is 3p21.1-p14.1 in the dominant type
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PURPOSE Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). METHODS It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relat...
متن کاملAutosomal dominant muscle cramp syndrome in a Japanese family.
OBJECTIVES To identify the clinical, electrophysiological, histological, and genetic characteristics of a Japanese family with a muscle cramp syndrome. METHODS Fourteen patients (eight men, six women) were studied in four generations of a single family. Electrophysiological examinations were performed in four cases and muscle and nerve biopsies were performed on the propositus. RESULTS The ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 1468-6244
DOI: 10.1136/jmg.38.7.488