Novel and Recurrent Mutations in the <b><i>FGFR3 </i></b> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia-Reference-Cited by-同舟云学术

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Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Published:2018 Issue:2 Volume:9 Page:92-99
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Gomes Maria E.S.,Kanazawa Thatiane Y.,Riba Fernanda R.,Pereira Natálya G.,Zuma Maria C.C.,Rabelo Natana C.,Sanseverino Maria T.,Horovitz Dafne D.G.,Llerena Jr. Juan C.,Cavalcanti Denise P.,Gonzalez Sayonara

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Cited by 12 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. Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date;American Journal of Medical Genetics Part A;2024-05-03

2. Mutational analysis of consanguineous families and their targeted therapy against dwarfism;Journal of Biomolecular Structure and Dynamics;2024-02-07

3. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias;Genetic Testing and Molecular Biomarkers;2021-10-01

4. Thanatophoric dysplasia: A brief neuropathological review;Clinical Neuropathology;2021-03-01

5. Skeletal dysplasias in Latin America;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-11-21

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