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Article

Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis

9 Aug 2013

Abstract excerpt

BACKGROUND: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or...

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PMID: 23928670
DOI: 10.1210/jc.2013-2491

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