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Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

9 Mar 2012

Abstract excerpt

Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparathyroidism, sensorineural deafness, and renal anomalies (HDR syndrome). Haploinsufficiency of a more proximal region, located on 10p13-10p14, designated as DGCR2 is associated with congenital heart defects and thymus hypoplasia/aplasia or T cell defect. We describe a patient showing facial dysmorphisms, delayed...

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PMID: 22407589
DOI: 10.1002/ajmg.a.34133

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