Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant-Reference-Cited by-同舟云学术

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant

Published:2023-11 Issue:11 Volume:66 Page:104867
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Travessa André M.^ORCID,Dias Patrícia,Rosmaninho-Salgado Joana,Aza-Carmona Miriam,Moldovan Oana,Díaz‐González Francisca,Godinho Fátima,Romeu José Carlos,Oliveira-Ramos Filipa,do Céu Barreiros Maria,Sousa Sérgio B.,Heath Karen E.,Sousa Ana Berta

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference24 articles.

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3. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum;Bardai;Osteoporos. Int.,2016

4. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia;Barraza-García;Clin. Genet.,2017

5. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta;Becker;Am. J. Hum. Genet.,2011

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1. Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta;Calcified Tissue International;2024-08-21