2 Result(s)
within
Teresa Mattina
Biomedicine
Gene Expression
Microarrays
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Article
Open AccessPartial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and ca...
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Article
Open AccessDecreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a prot...
