Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia-Reference-Cited by-同舟云学术

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Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia

Published:2010-11 Issue:5 Volume:47 Page:905-915
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Pannier Stéphanie,Mugniery Emilie,Jonquoy Aurélie,Benoist-Lasselin Catherine,Odent Thierry,Jais Jean-Philippe,Munnich Arnold,Legeai-Mallet Laurence

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference63 articles.

1. Achondroplasia;Baujat;Best Pract Res Clin Rheumatol,2008

2. Achondroplasia;Spranger,2002

3. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia;Rousseau;Nature,1994

4. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995

5. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1);Rousseau;Hum Mol Genet,1996

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1. Low–dose infigratinib increases bone growth and corrects growth plate abnormalities in an achondroplasia mouse model;Journal of Bone and Mineral Research;2024-04-09

2. Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice;JCI Insight;2023-06-22

3. Impairment of motor skills in children with achondroplasia—usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study;Acta Radiologica;2021-11-13

4. Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth;JCI Insight;2021-05-10

5. Prevention of guanylyl cyclase-B dephosphorylation rescues achondroplastic dwarfism;JCI Insight;2021-03-30

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