ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0018.4-14 | New Paradigms | ESPEYB18

4.14. Familial short stature-A novel phenotype of growth plate collagenopathies

Plachy Lukas , Dusatkova Petra , Maratova Klara , Petruzelkova Lenka , Elblova Lenka , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Zemkova Dana , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

J Clin Endocrinol Metab. 2021;106:1742–1749. doi: 10.1210/clinem/dgab084. PMID: 33570564This study aimed to assess the frequency of genetic collagenopathies in children with familial short stature (FSS), describing the phenotype and reporting the response to rhGH treatment after 1 and 3 years and at adult height.Collagen types II, IX, X, and XI are synthesized by...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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