Cargando…

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report

BACKGROUND: Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ho, Thuong Thi, Tran, Linh Huyen, Hoang, Lan Thu, Doan, Phuong Kim Thi, Nguyen, Trang Thi, Nguyen, Trang Hong, Tran, Hoai Thu, Hoang, Ha, Chu, Ha Hoang, Luong, Anh Lan Thi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140548/ https://www.ncbi.nlm.nih.gov/pubmed/32264862 http://dx.doi.org/10.1186/s12891-020-03222-4

Ejemplares similares

Genetic analyses of Vietnamese patients with oculocutaneous albinism
por: Thuong, Ma Thi Huyen, et al.
Publicado: (2022)

Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome
por: Luong, Anh Lan Thi, et al.
Publicado: (2019)

Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing
por: Ma, Thi Huyen Thuong, et al.
Publicado: (2021)

Methylation Profiles of BRCA1, RASSF1A and GSTP1 in Vietnamese Women with Breast Cancer
por: Vu, Trang Lan, et al.
Publicado: (2018)

Sibling bullying among Vietnamese children: the relation with peer bullying and subjective well-being
por: Truong, Thi Khanh Ha, et al.
Publicado: (2022)

Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
por: Doanh, Le Huu, et al.
Publicado: (2021)

Effects of probiotic (Lactobacillus plantarum and Bacillus subtilis) supplementation on mortality, growth performance, and carcass characteristics of native Vietnamese broilers challenged with Salmonella Typhimurium
por: Nam, Tran Van Be, et al.
Publicado: (2022)

Phylogenetic analysis and morphology of Ganoderma multipileum, a Ganoderma species associated with dieback of the metropolitan woody plant Delonix regia (Boj. ex Hook.) Raf. in Vietnam
por: Nguyen, Trang Thi Thu, et al.
Publicado: (2023)

Prevalence of Thalassemia in the Vietnamese Population and Building a Clinical Decision Support System for Prenatal Screening for Thalassemia
por: Tran, Danh Cuong, et al.
Publicado: (2023)

Anxiety and associated factors among Vietnamese students during COVID-19 pandemic: A cross-sectional study
por: Nguyen, Long Xuan, et al.
Publicado: (2023)

Adherence to methadone maintenance treatment and associated factors among patients in Vietnamese mountainside areas
por: Nguyen, Long Hoang, et al.
Publicado: (2017)

The Efficacy of a Two-Fold Increase of H1-Antihistamine in the Treatment of Chronic Urticaria - the Vietnamese Experience
por: Thi, Huyen Tran, et al.
Publicado: (2019)

COVID-19-related music-video-watching among the Vietnamese population: lessons on health education
por: Hung, Nguyen Tuan, et al.
Publicado: (2021)

Factors influencing adverse events following immunization with AZD1222 in Vietnamese adults during first half of 2021
por: Tran, Van Nhi, et al.
Publicado: (2021)

Nutritional status of Vietnamese infants assessed by Fenton growth chart and related factors: A cross‐sectional study
por: Nguyen, Lieu Thu Thi, et al.
Publicado: (2023)

Post-stroke depression in Vietnamese patients is associated with decreased sleep quality and increased fatigue: a one-institution cross-sectional analysis
por: Nguyen, Thao Thi Phuong, et al.
Publicado: (2022)

Determining Risk for Depression among Older People Residing in Vietnamese Rural Settings
por: Vu, Huyen Thi Thanh, et al.
Publicado: (2019)

Postoperative Pain Management among Registered Nurses in a Vietnamese Hospital
por: Vu, Phuong Hoang, et al.
Publicado: (2020)

An Efficient Hairy Root System for Validation of Plant Transformation Vector and CRISPR/Cas Construct Activities in Cucumber (Cucumis sativus L.)
por: Nguyen, Doai Van, et al.
Publicado: (2022)

Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR
por: Trang, Duong Thu, et al.
Publicado: (2022)

Telephone-Based Smoking Cessation Counseling Service: Satisfaction and Outcomes in Vietnamese Smokers
por: Ngo, Quy-Chau, et al.
Publicado: (2022)

Access to Improved Water Sources and Sanitation in Minority Ethnic People in Vietnam and Some Sociodemographic Associations: A 2019 National Survey
por: Huong, Le Thi Thanh, et al.
Publicado: (2020)

Immunization with the H5N1 Recombinant Vaccine Candidate Induces High Protection in Chickens against Vietnamese Highly Pathogenic Avian Influenza Virus Strains
por: Hoang, Hang Thi Thu, et al.
Publicado: (2020)

Reliability and Validity of SARC-F Questionnaire to Assess Sarcopenia Among Vietnamese Geriatric Patients
por: Nguyen, Tam Ngoc, et al.
Publicado: (2020)

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family
por: Nguyen, Ngoc-Lan, et al.
Publicado: (2020)

The association between clinical, subclinical features and autoantibody profile in Vietnamese dermatomyositis patients
por: Le, My Huyen, et al.
Publicado: (2023)

Hepatitis B Birth Dose Vaccination among Vietnamese Children: Implications for the Expanded Program on Immunization
por: Nguyen Si Anh, Hao, et al.
Publicado: (2019)

Adopting open access in the social sciences and humanities: evidence from a developing nation
por: Vuong, Thu-Trang, et al.
Publicado: (2020)

Changes in quality of life and its associated factors among illicit drug users in Vietnamese mountainous provinces: a 12-month follow-up study
por: Tran, Bach Xuan, et al.
Publicado: (2020)

HIV knowledge and risk behaviors among drug users in three Vietnamese mountainous provinces
por: Nguyen, Tam Minh Thi, et al.
Publicado: (2019)

Characterisation and antifungal activity of extracellular chitinase from a biocontrol fungus, Trichoderma asperellum PQ34
por: Loc, Nguyen Hoang, et al.
Publicado: (2019)

Efficacy of probiotics on digestive disorders and acute respiratory infections: a controlled clinical trial in young Vietnamese children
por: Mai, Truong Tuyet, et al.
Publicado: (2020)

Self-reported non-communicable diseases and associated socio-demographic status among ethnic minority populations in Vietnam, 2019
por: Van Minh, Hoang, et al.
Publicado: (2020)

Maternal vascular endothelial growth factor receptor and interleukin levels in pregnant women with twin-twin transfusion syndrome
por: Anh, Nguyen Duy, et al.
Publicado: (2021)

Evaluation of community-based screening tools for the early screening of osteoporosis in postmenopausal Vietnamese women
por: Bui, My Hanh, et al.
Publicado: (2022)

Voltammetric Determination of Amoxicillin Using a Reduced Graphite Oxide Nanosheet Electrode
por: Pham, Thi Hai Yen, et al.
Publicado: (2021)

Methadone Maintenance Treatment Reduces the Vulnerability of Drug Users on HIV/AIDS in Vietnamese Remote Settings: Assessing the Changes in HIV Knowledge, Perceived Risk, and Testing Uptake after a 12-Month Follow-Up
por: Nguyen, Tam Minh Thi, et al.
Publicado: (2018)

Host Genetic Risk Factors Associated with COVID-19 Susceptibility and Severity in Vietnamese
por: Nhung, Vu Phuong, et al.
Publicado: (2022)

Metagenomic 16S rDNA amplicon data of microbial diversity of guts in Vietnamese humans with type 2 diabetes and nondiabetic adults
por: Hoang, Hung The, et al.
Publicado: (2020)

Coping strategies and social support among caregivers of patients with cancer: a cross-sectional study in Vietnam
por: Long, Nguyen Xuan, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_i7bekfcsmpml8pdo3lsvi1itat