A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2-Reference-Cited by-同舟云学术

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A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2

Published:2020-06 Issue:6 Volume:63 Page:103896
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Udomchaiprasertkul Wandee,Kuptanon Chulaluck,Porntaveetus Thantrira,Shotelersuk Vorasuk

Funder

Thailand Research Fund

Medical Genomics Cluster, Chulalongkorn Academic Advancement Into Its 2nd Century Project, and Faculty of Dentistry

Chulalongkorn University

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference20 articles.

1. Biochemical bone markers in the assessment and pamidronate treatment of children and adolescents with osteogenesis imperfecta;Astrom;Acta Paediatr.,2010

2. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta;Ben Amor;J. Osteoporos.,2011

3. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta;Caparros-Martin;Mol. Genet. Genomic. Med.,2017

4. Autosomal recessive osteogenesis imperfecta caused by a novel homozygous COL1A2 mutation;Costantini;Calcif. Tissue Int.,2018

5. Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes;De Paepe;Hum. Genet.,1997

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1. Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes;Frontiers in Endocrinology;2023-10-20

2. Dental characteristics of patients with four different types of skeletal dysplasias;Clinical Oral Investigations;2023-08-07

3. Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2;Journal of Personalized Medicine;2021-06-08

4. Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review;Acta Ophthalmologica;2021-05-19

5. MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders;Journal of Translational Medicine;2021-03-20

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