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Latest Research Articles

23
Sep

Silver-Russell Syndrome, 7p12 and the GRB10 gene

Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. Silver-Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth restriction, poor growth after birth, relatively large head, a triangular face with a prominent forehead, body asymmetry and feeding difficulties. SRS is genetically...
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15
Jul

22q11.2 duplication, bladder exstrophy and the LZTR1 gene

22q11.2 duplication, bladder exstrophy and the LZTR1 gene Bladder exstrophy is a rare birth defect resulting in the malformation of the bladder and urethra. It is part of the bladder exstrophy-epispadias complex (BEEC). In several previously published reports children with bladder exstrophy were found to have duplications of the 22q11.2...
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