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MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

18 Nov 2015

Abstract excerpt

The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling,...

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PMID: 26578640
DOI: 10.1530/eje-15-0937

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