Bloom's syndrome in a 12-year-old Iranian girl
نویسندگان
چکیده
منابع مشابه
Bloom's syndrome in a 12-year-old Iranian girl
BACKGROUND Bloom's syndrome, an autosomal recessive inherited disorder, belongs to the group of chromosomal breakage syndromes. The clinical diagnosis of BS is confirmed cytogenetically. Its frequency in the general population is unknown but it is common in eastern European Ashkenazi Jews. CASE REPORT A 12-year-old girl was referred to us because of short stature. She was the second child of ...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2008
ISSN: 0971-6866
DOI: 10.4103/0971-6866.45003