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1.
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.
Am J Med Genet A
; 164A(11): 2764-8, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25125269
2.
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
Am J Med Genet A
; 149A(2): 147-54, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19133692
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