Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

Bibliographic Details
Main Authors:	Jeong, Changhoon, Lee, Jae Young, Kim, Jiyeon, Chae, Hyojin, Park, Hae-il, Kim, Myungshin, Kim, Ok-Hwa, Kim, Paul, Lee, Young Kee, Jung, Jongsun
Format:	Online
Language:	English
Published:	BioMed Central 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236474/

Similar Items

X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
by: Ryu, Hyejin, et al.
Published: (2012)

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study
by: Seo, Sang Gyo, et al.
Published: (2014)

6.4 Spondylo-epiphyseal dysplasia – a physiotherapy approach
by: Mato, H, et al.
Published: (2008)

Polyostotic Fibrous Dysplasia with Epiphyseal Involvement in Long Bones: A Case Report
by: Fukui, Tomoaki, et al.
Published: (2013)

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients
by: Park, Joonhong, et al.
Published: (2016)

Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: Identification of four novel mutations
by: Park, Shin Hae, et al.
Published: (2012)

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations
by: Park, Shin Hae, et al.
Published: (2015)

Placental Mesenchymal Dysplasia with Fetal Gastroschisis
by: Kim, Binnari, et al.
Published: (2015)

Feasibility of a Microarray-Based Point-of-Care CYP2C19 Genotyping Test for Predicting Clopidogrel On-Treatment Platelet Reactivity
by: Chae, Hyojin, et al.
Published: (2013)

Separation of Epiphyses
Published: (1901)

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization
by: Jang, Woori, et al.
Published: (2016)

Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening
by: Park, Joonhong, et al.
Published: (2016)

Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis
by: Cho, Won Kyoung, et al.
Published: (2015)

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia
by: Chae, Hyojin, et al.
Published: (2014)

Upgrade of Lesions Initially Diagnosed as Low-Grade Gastric Dysplasia upon Forceps Biopsy Following Endoscopic Resection
by: Won, Chan Sik, et al.
Published: (2011)

A Rare Case of Epiphyseal Chondromyxoid Fibroma of the Proximal Tibia
by: Choi, Yun Sun, et al.
Published: (2011)

A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report
by: HAN, JI YOON, et al.
Published: (2016)

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
by: Cotterill, Sally L, et al.
Published: (2005)

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
by: Ali, Bassam R, et al.
Published: (2012)

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
by: Jackson, Gail C, et al.
Published: (2010)

Fractures and Separated Epiphyses
Published: (1911)

Traumatic Separation of the Epiphyses
Published: (1899)

Pubertal growth and epiphyseal fusion
by: Shim, Kye Shik
Published: (2015)

Association of COL2A1 Gene Polymorphism with Degenerative Lumbar Scoliosis
by: Hwang, Dae Woo, et al.
Published: (2014)

Incidence of Bronchopulmonary Dysplasia in Korea
by: Choi, Chang Won, et al.
Published: (2012)

Leukemia cutis in a patient with acute monocytic leukemia diagnosed simultaneously with hepatocellular carcinoma: A case study
by: SEOK, DONG KEUN, et al.
Published: (2013)

Malignant Mesothelioma Diagnosed by Bronchoscopic Biopsy
by: Park, Yeon-Hee, et al.
Published: (2015)

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
by: Taifeng Zhou, et al.
Published: (2018-05-01)

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita
by: Huang, Xiangjun, et al.
Published: (2015)

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
by: Park, Hyung Jun, et al.
Published: (2015)

A Case of Endoscopic Full-Thickness Resection in a Patient with Gastric High-Grade Dysplasia Unsuitable for Endoscopic Submucosal Dissection
by: Chae, Jung Min, et al.
Published: (2014)

A Case of Metastatic Angiosarcoma Diagnosed by Liquid-Based Preparation: Peculiar Cytoplasmic Changes
by: Jung, Min Jung, et al.
Published: (2014)

Molecular Features of Three Children Diagnosed With Early T-Cell Precursor Acute Lymphoblastic Leukemia
by: Park, Dongjin, et al.
Published: (2016)

Neuroendocrine Dysplasia Combined in a Tubular Adenoma of Rectum: A Case Report
by: Lee, So-Young, et al.
Published: (2013)

The COL5A1 genotype is associated with range of motion
by: Lim, Seung-Taek, et al.
Published: (2015)

Impact of Genetic Abnormalities on the Prognoses and Clinical Parameters of Patients with Multiple Myeloma
by: Jekarl, Dong Wook, et al.
Published: (2013)

Interstitial pneumonia pattern on day 7 chest radiograph predicts bronchopulmonary dysplasia in preterm infants
by: Hye-Rim Kim, et al.
Published: (2017-05-01)

Progression of Monoclonal Gammopathy with Undetermined Significance to Multiple Myeloma Diagnosed by Kidney Biopsy: A Case Report
by: Kim, Jin Hae, et al.
Published: (2015)

Focal Cortical Dysplasia and Epilepsy Surgery
by: Lee, Sang Kun, et al.
Published: (2013)

VESICLES ASSOCIATED WITH CALCIFICATION IN THE MATRIX OF EPIPHYSEAL CARTILAGE
by: Anderson, H. Clarke
Published: (1969)