6q25.1-q25.3 Microdeletion in a Chinese Girl
نویسندگان
چکیده
منابع مشابه
Metastatic Crohn's disease in a Chinese girl.
Metastatic Crohn's disease, in which non-caseating granulomatous infiltration of the skin occurs at sites separated from the gastro-intestinal tract by normal tissue, is the least common dermatologic manifestation of Crohn's disease. We report a 15-year-old girl with metastatic Crohn's disease presenting as granulomatous vulvar papules and nodules with typical histopathologic features. To the b...
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متن کاملA novel intragenic microdeletion in RUNX2 in a Chinese family with cleidocranial dysplasia
Objective: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia which is characterized by cranial, clavicular, and dental anomalies. Aberrations in the RUNX2 gene, which is considered to be responsible for CCD, were investigated in a Chinese family with CCD in this study. Methods: Genomic DNA was isolated from the blood samples of all 11 participants, including 3 patien...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2021
ISSN: 1308-5727,1308-5735
DOI: 10.4274/jcrpe.galenos.2020.2020.0008