Cargando…

ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases

BACKGROUND: Coffin-Siris syndrome (CSS) is a multiple congenital anomaly syndrome characterized by coarse facial features, sparse scalp hair, hypertrichosis, and hypo/aplastic digital nails and phalanges. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Xiaoyan, Wu, Haiying, Sun, Hui, Wang, Lili, Chen, Linqi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9265212/ https://www.ncbi.nlm.nih.gov/pubmed/35813374 http://dx.doi.org/10.3389/fped.2022.911954

Ejemplares similares

Coffin–Siris syndrome: Clinical description of two cases
por: Hollander, Nina, et al.
Publicado: (2022)

Language Impairments in Individuals With Coffin-Siris Syndrome
por: Vasko, Ashley, et al.
Publicado: (2022)

Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation
por: Tchanque-Fossuo, Catherine N., et al.
Publicado: (2018)

De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
por: Pranckėnienė, Laura, et al.
Publicado: (2019)

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
por: van der Sluijs, Pleuntje J., et al.
Publicado: (2018)

Anesthetic management in a child with Coffin Siris syndrome
por: Parikh, Badal, et al.
Publicado: (2023)

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
por: van der Sluijs, Pleuntje J., et al.
Publicado: (2019)

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome
por: Vasko, Ashley, et al.
Publicado: (2021)

Autism spectrum disorder and Coffin–Siris syndrome—Case report
por: Milutinovic, Luka, et al.
Publicado: (2023)

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
por: Sofronova, Viktoriia, et al.
Publicado: (2022)

Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1
por: Min, Zhong, et al.
Publicado: (2021)

Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
por: Tao, Dong-Ying, et al.
Publicado: (2022)

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
por: Wang, Qiuquan, et al.
Publicado: (2022)

Successful difficult airway management of a child with Coffin‐siris syndrome
por: Ozkan, Ahmet Selim, et al.
Publicado: (2017)

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
por: Miyatake, Satoko, et al.
Publicado: (2017)

A de novo variant of BICRA results in Coffin–Siris syndrome 12
por: Tu, Youquan, et al.
Publicado: (2023)

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
por: Goyal, Deepak, et al.
Publicado: (2010)

Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
por: Rojananuangnit, Kulawan, et al.
Publicado: (2023)

Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
por: Bellantoni, G., et al.
Publicado: (2018)

Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
por: Hanker, Britta, et al.
Publicado: (2021)

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
por: Kaname, Tadashi, et al.
Publicado: (2017)

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9
por: Ding, Yu, et al.
Publicado: (2022)

Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome
por: Jia, Shaoting, et al.
Publicado: (2020)

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature
por: Nemani, Lalita, et al.
Publicado: (2014)

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
por: Filatova, Alina, et al.
Publicado: (2019)

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
por: Diel, Heidi, et al.
Publicado: (2021)

SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
por: Errichiello, Edoardo, et al.
Publicado: (2017)

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
por: Lu, Guanting, et al.
Publicado: (2021)

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
por: Hempel, Annmarie, et al.
Publicado: (2016)

A case of Coffin–Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant
por: Dsouza, Nikita R., et al.
Publicado: (2019)

Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
por: Diel, Heidi, et al.
Publicado: (2021)

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
por: Grochowski, Christopher M., et al.
Publicado: (2021)

Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
por: Lv, Ying, et al.
Publicado: (2019)

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
por: Aref-Eshghi, Erfan, et al.
Publicado: (2018)

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome
por: Aguilera, Cinthia, et al.
Publicado: (2018)

A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome
por: Lee, Cha Gon, et al.
Publicado: (2021)

Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review
por: Bilha, Stefana Catalina, et al.
Publicado: (2022)

Cares and Coffins
Publicado: (1890)

Talking to Siri
por: Sadun, Erica, et al.
Publicado: (2012)

Siri for dummies
por: Saltzman, Marc
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_247vhngvuqa0193mu1cf93q3i9