A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

Background: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and/or retina...

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Bibliographic Details
Main Authors: Cao, X. (Author), Chen, Z. (Author), Yang, X. (Author), Zhao, C. (Author), Zhao, J. (Author), Zhou, T. (Author), Zhou, Y. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2021
Subjects:
adult
Adult
Article
Asian continental ancestry group
Asian Continental Ancestry Group
Base Sequence
bone dysplasia
bone radiography
case report
cervical vertebra
Cervical Vertebrae
chest tightness
China
Chinese
Chinese population
chondrodysplasia
clinical article
clinical feature
COL2A1
COL2A1 gene
COL2A1 protein, human
collagen type 2
Collagen Type II
computer assisted tomography
decompression surgery
Decompression, Surgical
diagnostic imaging
dyspnea
family
Family
female
Female
follow up
gene
gene mutation
genetic association
genetics
heterozygosity
hip dysplasia
human
Humans
knee disease
knee dysplasia
Magnetic Resonance Imaging
mutation
Mutation
nuclear magnetic resonance imaging
nucleotide sequence
occipitocervical fusion
odontoid process dysplasia
Osteochondrodysplasias
paresthesia
pedigree
Pedigree
phenotype
physical examination
quality control
Quality Control
scoliosis
short stature
spondyloepiphyseal dysplasia
spondyloepiphyseal dysplasia congenita (SEDC)
upper cervical decompression
whole exome sequencing
Whole Exome Sequencing
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