Cargando…

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

BACKGROUND: Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Niu, Wang, Yirou, Yang, Yu, Wang, Pengpeng, Huang, Hui, Xiong, Shiyi, Sun, Luming, Cheng, Min, Song, Cui, Cheng, Xinran, Ding, Yu, Chang, Guoying, Chen, Yao, Xu, Yufei, Yu, Tingting, Yao, Ru-en, Shen, Yiping, Wang, Xiumin, Wang, Jian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180513/ https://www.ncbi.nlm.nih.gov/pubmed/30305169 http://dx.doi.org/10.1186/s13023-018-0909-0

Ejemplares similares

Wiedemann–Steiner Syndrome: Case Report and Review of Literature
por: Yu, Huan, et al.
Publicado: (2022)

Wiedemann‐Steiner syndrome: A case report
por: Hirst, Lorna, et al.
Publicado: (2021)

Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan
por: Lee, Chung-Lin, et al.
Publicado: (2021)

A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome
por: Wang, Sifeng, et al.
Publicado: (2023)

Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
por: Stoyle, George, et al.
Publicado: (2018)

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome
por: Ng, Rowena, et al.
Publicado: (2022)

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
por: Feng, Biyun, et al.
Publicado: (2023)

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome
por: Lin, Yunting, et al.
Publicado: (2023)

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
por: Ramirez-Montaño, Diana, et al.
Publicado: (2019)

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report
por: Jinxiu, Liu, et al.
Publicado: (2020)

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome
por: Benítez Ríos, Fabiola A, et al.
Publicado: (2023)

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants
por: Ding, Yu, et al.
Publicado: (2023)

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review
por: Li, Niu, et al.
Publicado: (2017)

Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome
por: Buchanan, Katherine, et al.
Publicado: (2022)

Steiner trees in industry
por: Cheng, Xiu, et al.
Publicado: (2001)

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome
por: Luo, Sukun, et al.
Publicado: (2021)

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
por: Di Fede, Elisabetta, et al.
Publicado: (2020)

The Steiner ratio
por: Cieslik, Dietmar
Publicado: (2001)

Trio‐WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann‐Steiner syndrome: A case report
por: Wang, Xiong, et al.
Publicado: (2020)

Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China
por: Zhang, Qianwen, et al.
Publicado: (2023)

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
por: Li, Niu, et al.
Publicado: (2017)

Implementation of Steiner Point of Fuzzy Set
por: Liang, Jiuzhen, et al.
Publicado: (2014)

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children
por: Yao, Ruen, et al.
Publicado: (2019)

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
por: Reynisdottir, Tinna, et al.
Publicado: (2022)

The Steiner tree problem
por: Hwang, FK, et al.
Publicado: (1992)

Topics on Steiner systems
por: Linder, charles C
Publicado: (1980)

Steiner minimal trees
por: Cieslik, Dietmar
Publicado: (1998)

Advances in steiner trees
por: Du, Ding-Zhu, et al.
Publicado: (2000)

Yann Andréa Steiner
por: Duras, Marguerite
Publicado: (1993)

Isomorphic Steiner Symmetrization
por: Klartag, B, et al.
Publicado: (2002)

Steiner on Children's Diseases
Publicado: (1875)

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
por: Yao, Ruen, et al.
Publicado: (2017)

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
por: Strom, Samuel P, et al.
Publicado: (2014)

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
por: Li, Xin, et al.
Publicado: (2021)

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study
por: Tang, Yijun, et al.
Publicado: (2023)

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
por: Zhang, Qianwen, et al.
Publicado: (2022)

Flag-transitive steiner designs
por: Huber, Michael
Publicado: (2009)

The Steiner formula for Minkowski valuations
por: Parapatits, Lukas, et al.
Publicado: (2012)

Remembering Donald F. Steiner
por: Weiss, Michael A., et al.
Publicado: (2015)

The Steiner Problem for Count Matroids
por: Jordán, Tibor, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_qlo4q1ugia6dqqd7gkidspa6o6