Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2016-03, Vol.170A (3), p.795-798
Main Authors: Takagi, Masaki, Shimizu, Mika, Suzuki, Eri, Shinohara, Hiroyuki, Narumi, Satoshi, Hasegawa, Tomonobu, Nishimura, Gen, Hasegawa, Yukihiro
Format: Article
Language:English
Subjects:
Adolescent
Adult
Alleles
Amino Acid Substitution
Bone and Bones - diagnostic imaging
Bone and Bones - pathology
Codon
Collagen Type II - genetics
DNA Mutational Analysis
Exome
Genes, Dominant
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - genetics
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37481