High specificity of head circumference to recognize N540K mutation in hypochondroplasia-Reference-Cited by-同舟云学术

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High specificity of head circumference to recognize N540K mutation in hypochondroplasia

Published:2005-01 Issue:6 Volume:32 Page:782-788
ISSN:0301-4460
Container-title:Annals of Human Biology
language:en
Short-container-title:Annals of Human Biology

Author:

Fano Virginia,Gravina Luis Pablo,Pino Mariana Del,Chertkoff Lilien,Barreiro Cristina,Lejarraga Horacio

Publisher

Informa UK Limited

Subject

Public Health, Environmental and Occupational Health,Genetics,Aging,Physiology,Epidemiology

Link

http://www.tandfonline.com/doi/pdf/10.1080/03014460500268481

Reference23 articles.

1. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

2. Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

3. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia

4. Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Growth Topics in FGFR3-Related Skeletal Dysplasias;Current Treatment Options in Pediatrics;2021-03-22

2. Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation;Journal of Pediatric Genetics;2019-09-02

3. FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation;Journal of Pediatric Endocrinology and Metabolism;2018-10-18

4. Argentine references for the assessment of body proportions from birth to 17 years of age;Archivos Argentinos de Pediatria;2017-06-01

5. Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis;Brain and Development;2017-01

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