Cargando…

Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly

CTNNB1 gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of CTNNB1 mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental disorder caused by a mutation of CTNNB1. The child...

Descripción completa

Detalles Bibliográficos
Autores principales:	KE, Zhongling, CHEN, Yanhui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793974/ https://www.ncbi.nlm.nih.gov/pubmed/33425807 http://dx.doi.org/10.3389/fped.2020.575673

Ejemplares similares

CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report
por: Lee, Jaewoong, et al.
Publicado: (2023)

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
por: Lee, Seungbok, et al.
Publicado: (2022)

CTNNB1 in neurodevelopmental disorders
por: Zhuang, Wenting, et al.
Publicado: (2023)

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
por: Winczewska-Wiktor, Anna, et al.
Publicado: (2016)

Review of Literature: Genes Related to Postaxial Polydactyly
por: Verma, Prashant Kumar, et al.
Publicado: (2015)

On-Top Plasty at the Level of the Metatarsal Neck for Treatment of Polydactyly
por: Liao, Wei, et al.
Publicado: (2022)

Ankyloglossia, Syndactyly and Polydactyly in the Pediatric Patient
por: Morgado Dias, Joana, et al.
Publicado: (2023)

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
por: Rossetti, Linda Z., et al.
Publicado: (2020)

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)

Genetic Testing in Neurodevelopmental Disorders
por: Savatt, Juliann M., et al.
Publicado: (2021)

Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report
por: Yu, Ying, et al.
Publicado: (2022)

ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics
por: Zeng, Lei, et al.
Publicado: (2022)

Analysis of trio test in neurodevelopmental disorders
por: Kim, Se Hee, et al.
Publicado: (2022)

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly
por: Wang, Tao, et al.
Publicado: (2021)

PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development.
por: Greenfield, Andy, et al.
Publicado: (2022)

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
por: Ye, Yizhou, et al.
Publicado: (2015)

Future Horizons for Neurodevelopmental Disorders: Placental Mechanisms
por: Kundu, Sreelekha, et al.
Publicado: (2021)

The diagnostic yield of CGH and WES in neurodevelopmental disorders
por: Alotibi, Raniah S., et al.
Publicado: (2023)

ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features
por: Lin, Zehong, et al.
Publicado: (2021)

Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report
por: Chen, Li-juan, et al.
Publicado: (2023)

Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons
por: Silverstein, Max L., et al.
Publicado: (2021)

Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review
por: Li, Xiaojie, et al.
Publicado: (2022)

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment
por: Huang, Li, et al.
Publicado: (2020)

Severe Retinopathy of Prematurity Associated With Neurodevelopmental Disorder in Children
por: Choi, Young-Jin, et al.
Publicado: (2022)

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
por: Wilfert, Amy B., et al.
Publicado: (2017)

Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders
por: Cuppens, Tania, et al.
Publicado: (2023)

Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects
por: Bulot, Vincent, et al.
Publicado: (2022)

Aesthetic outcomes of and anatomic reconstruction for Wassel type IV-D radial polydactyly using a modified Bilhaut-Cloquet procedure
por: Du, Zijing, et al.
Publicado: (2023)

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction
por: Henderson, Robert H., et al.
Publicado: (2009)

Characteristics of Eyes Developing Retinal Detachment After Anti-vascular Endothelial Growth Factor Therapy for Retinopathy of Prematurity
por: Kondo, Chiori, et al.
Publicado: (2022)

Review of neurodevelopmental disorders in patients with HNF1B gene variations
por: Nittel, Clara Marie, et al.
Publicado: (2023)

Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene
por: Guardiola, Gabriel, et al.
Publicado: (2021)

Feeding and Eating Disorder and Risk of Subsequent Neurodevelopmental Disorders: A Population-Based Cohort Study
por: Shan, Hongyun, et al.
Publicado: (2021)

Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
por: Zhang, Di, et al.
Publicado: (2022)

Prenatal IgE as a Risk Factor for the Development of Childhood Neurodevelopmental Disorders
por: Straughen, Jennifer K., et al.
Publicado: (2021)

Corrigendum: Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
por: Zhang, Di, et al.
Publicado: (2022)

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation
por: Zhang, Wen, et al.
Publicado: (2022)

Step-Initiation Deficits in Children with Faulty Posture Diagnosed with Neurodevelopmental Disorders during Infancy
por: Stania, Magdalena, et al.
Publicado: (2017)

Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities
por: Yang, Sai, et al.
Publicado: (2020)

Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder
por: Xiong, Juan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_oultc5hbo8mhemcupa97u3fo5o