Cargando…

Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies

Backround: Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with asymmetric short stature (e.g. Kniest dysplasia, spondyloepiphyseal dysp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Plachy, Lukas, Dusatkova, Petra, Maratova, Klara, Petruzelkova, Lenka, Kolouskova, Stanislava, Snajderova, Marta, Obermannova, Barbora, Zemkova, Dana, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Pediatric Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090452/ http://dx.doi.org/10.1210/jendso/bvab048.1472

Ejemplares similares

Analysis of children with familial short stature: who should be indicated for genetic testing?
por: Plachy, Lukas, et al.
Publicado: (2023)

Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
por: Plachy, Lukas, et al.
Publicado: (2023)

Response to Letter to the Editor from Youn Hee Jee: “Familial Short Stature - A Novel Phenotype of Growth Plate Collagenopathies”
por: Plachy, Lukas, et al.
Publicado: (2021)

Stratifying the Genetic Aetiology in Children Born Small for Gestational Age With Persistent Short Stature (SGA-SS)
por: Toni, Ledjona, et al.
Publicado: (2021)

Treated Autoimmune Thyroid Disease Is Associated with a Decreased Quality of Life among Young Persons with Type 1 Diabetes
por: Spirkova, Alena, et al.
Publicado: (2015)

Low-Carbohydrate Diet among Children with Type 1 Diabetes: A Multi-Center Study
por: Neuman, Vit, et al.
Publicado: (2021)

Growth Hormone Deficiency: Extending the Phenotypic Spectrum of SALL4-Related Disorders
por: Kodytková, Aneta, et al.
Publicado: (2021)

Myeloid - derived suppressor cells in Type 1 diabetes are an expanded population exhibiting diverse T-cell suppressor mechanisms
por: Grohová, Anna, et al.
Publicado: (2020)

Growth Plate Genes Are Key Regulators of Growth: Lessons Learned From Children of Consanguineous Families From Kurdistan, Iraq
por: Amaratunga, Shenali Anne, et al.
Publicado: (2021)

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young
por: Dusatkova, Petra, et al.
Publicado: (2022)

Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration: Is it time to change the diagnostic criteria for MODY?
por: Pruhova, Stepanka, et al.
Publicado: (2013)

Are all HCL systems the same? long term outcomes of three HCL systems in children with type 1 diabetes: real-life registry-based study
por: Santova, Alzbeta, et al.
Publicado: (2023)

Neutrophil Extracellular Trap Induced Dendritic Cell Activation Leads to Th1 Polarization in Type 1 Diabetes
por: Parackova, Zuzana, et al.
Publicado: (2020)

Elevated Biomarkers of NETosis in the Serum of Pediatric Patients With Type 1 Diabetes and Their First-Degree Relatives
por: Klocperk, Adam, et al.
Publicado: (2021)

Data on microbial DNA-induced IL-1β production in monocytes of type 1 diabetes patients
por: Zentsova, Irena, et al.
Publicado: (2019)

A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents
por: Maratova, Klara, et al.
Publicado: (2023)

The Effect of Diabetes-Associated Autoantigens on Cell Processes in Human PBMCs and Their Relevance to Autoimmune Diabetes Development
por: Vcelakova, Jana, et al.
Publicado: (2013)

SUN-076 Somatic and Neurodevelopmental Outcome and Muscle Tone in 5 to 9 Year Old Children Born After Intracytoplasmic Sperm Injection
por: Snajderova, Marta, et al.
Publicado: (2020)

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)
por: Boesgaard, Trine W, et al.
Publicado: (2010)

Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness
por: Pruhova, Stepanka, et al.
Publicado: (2013)

Collagenopathies—Implications for Abdominal Wall Reconstruction: A Systematic Review
por: Harrison, Bridget, et al.
Publicado: (2016)

The Relationship Between Children's Birth Time and Short Stature
por: Wang, Shuo, et al.
Publicado: (2022)

SUN-252 Comparison of Sitting Height/Height Ratio for Age in Children with Short Stature Caused by Defects in Growth Plate Genes
por: Vasques, Gabriela, et al.
Publicado: (2019)

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
por: Gistelinck, Charlotte, et al.
Publicado: (2018)

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction
por: Ilves, Norman, et al.
Publicado: (2023)

Analysis of risk factors and construction of a prediction model for short stature in children
por: Huang, Shaojun, et al.
Publicado: (2022)

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
por: Sangsin, Apiruk, et al.
Publicado: (2016)

Risk Factors for Short Stature in Children Born Small for Gestational Age at Full-Term
por: Ling, Lan, et al.
Publicado: (2022)

Non-linear relationship between sleep duration and blood pressure in children with short stature
por: Zhao, Qianqian, et al.
Publicado: (2023)

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
por: Brisset, Sophie, et al.
Publicado: (2014)

Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
por: Bezdíčka, Martin, et al.
Publicado: (2021)

Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome
por: Jiang, Lihong, et al.
Publicado: (2022)

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination
por: Khan, Arif O., et al.
Publicado: (2021)

Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel ACAN Variants
por: Sun, Jie, et al.
Publicado: (2022)

Short Stature and Celiac Disease in Children (5 to 16 Years) Presenting at a Tertiary Care Hospital in Peshawar
por: Muhammad, Amir, et al.
Publicado: (2022)

SAT-060 Unusual Case of Short Stature and Poor Growth in Childhood
por: Patni, Nivedita, et al.
Publicado: (2020)

Education, Altitude, and Humidity Can Interactively Explain Spatial Discrepancy and Predict Short Stature in 213,795 Chinese School Children
por: Ma, Jia, et al.
Publicado: (2019)

SAT-LB17 Triplication of SHOX Downstream Region in Mild Short Stature
por: Bunyan, David J, et al.
Publicado: (2020)

Assessment and referral of patients with short stature by primary care physicians in the Arabian gulf region: Current perspectives from a regional survey
por: Kaplan, W., et al.
Publicado: (2022)

Growth Hormone Therapy for Children With Duchenne Muscular Dystrophy and Glucocorticoid Induced Short Stature
por: Lavi, Eran, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_nl1umaei4t733t1ljl7c4usadb