Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis-Reference-Cited by-同舟云学术

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

Published:2023-02-07 Issue:8 Volume:46 Page:1673-1684
ISSN:1720-8386
Container-title:Journal of Endocrinological Investigation
language:en
Short-container-title:J Endocrinol Invest

Author:

Ertl D.-A.^ORCID,Mantovani G.,de Nanclares G. P.,Elli F. M.,Pereda A.,Pagnano A.,Sanchis A.,Cueto-Gonzalez A. M.,Berrade S.,León M. C.^ORCID,Rothenbuhler A.,Audrain C.,Berkenou J.,Knight N.,Dolman K.,Gleiss A.,Argente J.^ORCID,Linglart A.^ORCID

Funder

Instituto de Salud Carlos III (ISCIIII) of the Ministry of Economy and Competitiveness

European Regional Development Fund

European Society for Paediatric Endocrinology

Agenzia Nazionale di Valutazione del Sistema Universitario e della Ricerca

Progetti di Ricerca di Interesse Nazionale

RaDiCo PIA « ANR » IO-COHO-03 grant

AP-HP recurrent funds from the rare disease plan

Ricerca Corrente Funds from the Italian Ministry of Health to Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s40618-023-02026-2.pdf

Reference41 articles.

1. Maroteaux P, Malamut G (1968) L’acrodysostose [Acrodysostosis]. Presse Med 76(46):2189–2192

2. Robinow M, Pfeiffer RA, Gorlin RJ et al (1971) Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child 121(3):195–203

3. Silve C, Clauser E, Linglart A (2012) Acrodysostosis. Horm Metab Res 44(10):749–758

4. Linglart A, Menguy C, Couvineau A et al (2011) Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 364(23):2218–2226

5. Michot C, Le Goff C, Goldenberg A et al (2012) Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet 90(4):740–745

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