The 22q11.2 Deletion Syndrome: A gene dosage perspective.
نویسندگان
چکیده
منابع مشابه
22q11 deletion syndrome: current perspective
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is as...
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ژورنال
عنوان ژورنال: TSW Development & Embryology
سال: 2006
ISSN: 1749-4958
DOI: 10.1100/tswde.2006.103