Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions-Reference-Cited by-同舟云学术

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions

Published:2020-02 Issue:2 Volume:63 Page:103729
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Marzin Pauline,Baujat Geneviève,Gensburger Déborah,Huber Céline,Bole Christine,Panuel Michel,Finidori Georges,De la Dure Muriel,Cormier-Daire Valérie

Funder

Fondation Maladies Rares

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata.;Azouz;Pediatr Radiol.,1997

2. Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations;Bailleul‐Forestier;Int. J. Paediatr. Dent.,2010

3. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation;Bastepe;Rev. Endocr. Metab. Disord.,2008

4. Fibroblast growth factor (FGF) receptor 1-IIIb is a naturally occurring functional receptor for FGFs that is preferentially expressed in the skin and the brain;Beer;J. Biol. Chem.,2000

5. Osteoglophonic dwarfism;Beighton;Pediatr. Radiol.,1980

Cited by 9 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. Metabolic Bone Diseases Affecting Tooth Eruption: A Narrative Review;Children;2024-06-20

2. Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review;Clinical Genetics;2023-07-13

3. Uncovering genetic causes of hypophosphatemia;Journal of Internal Medicine;2023-04-16

4. Establishment of inclusive single-cell transcriptome atlases from mouse and human tooth as powerful resource for dental research;Frontiers in Cell and Developmental Biology;2022-10-10

5. Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up;BMC Oral Health;2022-02-11