Cover Image

Novel SETBP1 mutation in a chinese family with intellectual disability

Abstract Background Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ID may occur due to multiple causes, such as metabolic, infectious, and chromosomal causes. ID affects approximately...

Full description

Saved in:

Bibliographic Details
Main Authors:	Le Wang (Author), Xu-Dong Wang (Author), Bo Yang (Author), Xue-Meng Wang (Author), Yu-Qian Peng (Author), Hang-Jing Tan (Author), Hong-Mei Xiao (Author)
Format:	Book
Published:	BMC, 2023-10-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants
by: Bo Tan, et al.
Published: (2023)

Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome
by: Hansong Yang, et al.
Published: (2022)

SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome
by: Katherine Linder, et al.
Published: (2017)

SETBP-1 mutations favor transformation to AML in PTPN-11 positive JMML
by: Ravi Kumar Majhi, et al.
Published: (2024)

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families
by: Liwei Sun, et al.
Published: (2020)

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
by: Huifang Yan, et al.
Published: (2019)

Exome sequencing identifies novel and known mutations in families with intellectual disability
by: Memoona Rasheed, et al.
Published: (2021)

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report
by: Qin Wang, et al.
Published: (2018)

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
by: Shaomin Wu, et al.
Published: (2022)

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
by: Yanyan Qian, et al.
Published: (2020)

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature
by: Jing Zheng, et al.
Published: (2024)

Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation
by: Jiaping Wang, et al.
Published: (2018)

Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability
by: Chunyan Jin, et al.
Published: (2021)

Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund-Thomson Syndrome in Two Chinese Families
by: Chao-Lan Pan, et al.
Published: (2021)

A novel variant in NSUN2 causes intellectual disability in a Chinese family
by: Qi Yang, et al.
Published: (2024)

The aging of families with members with intellectual disabilities
by: Renata Balieiro Takebayashi, et al.

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia
by: Yuhua Pan, et al.
Published: (2021)

A Korean boy with a mutation who presented with overgrowth, intellectual disability, and autism
by: Chiwoo Kim, et al.
Published: (2023)

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability
by: Mei Daoqi, et al.
Published: (2020)

Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations
by: Da Hong, et al.
Published: (2019)

Families of Children with Intellectual Disabilities and Quality of Life
by: Majda Schmidt Krajnc, et al.
Published: (2017)

Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda
by: Tian Wang, et al.
Published: (2023)

A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease
by: Zhendi Wang, et al.
Published: (2014)

MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
by: André Costa e Silva, et al.
Published: (2024)

Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report
by: Fatma Bastaki, et al.
Published: (2017)

Validation of the Chinese Non‐pharmacological Therapy Experience Scale in persons with intellectual disability
by: Lily Yuen Wah Ho, et al.
Published: (2020)

Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1
by: Chih-Ping Chen, et al.
Published: (2017)

Anesthesia for intellectually disabled
by: Kapil Chaudhary, et al.
Published: (2017)

A novel deletion mutation in the <it>TUSC3 </it>gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
by: Ali Nadir, et al.
Published: (2011)

Mutation analysis of the MVD gene in a chinese family with disseminated superficial actinic porokeratosis and a chinese literature review
by: Wenjun Qian, et al.
Published: (2021)

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
by: Mostafa Saghi, et al.
Published: (2022)

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
by: Yi Gu, et al.
Published: (2020)

Mutation screening of <it>ASMT</it>, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability
by: Tzschach Andreas, et al.
Published: (2011)

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency
by: Ping Wang, et al.
Published: (2019)

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
by: Yanjie Fan, et al.
Published: (2018)

A novel <it>COMP </it>mutation in a pseudoachondroplasia family of Chinese origin
by: Zhu Jun, et al.
Published: (2011)

A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure
by: Chunli Wang, et al.
Published: (2013)

Intellectual Disability and Assistive Technology
Published: (2019)

Intellectual disability and the prison setting
by: V. Tort, et al.
Published: (2016)

Intellectual disability and the prison setting
by: V. Tort, et al.
Published: (2016)