ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0019.4-10 | New Perspectives | ESPEYB19

4.10. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes

A Andrews , A Maharaj , E Cottrell , S Chatterjee , P Shah , L Denvir , K Dumic , A Bossowski , T Mushtaq , R Vukovic , M Didi , N Shaw , LA Metherell , MO Savage , HL Storr

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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