Cargando…

Correction: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome

Detalles Bibliográficos
Autores principales:	Zhu, Jun, Qiu, Jun, Magrane, Gregg, Abedalthagafi, Malak, Zanko, Andrea, Golabi, Mahin, Chehab, Farid F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Correction
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765464/ http://dx.doi.org/10.1371/annotation/c8463645-79f3-4d9b-bc55-d5d53e43a9ba

Ejemplares similares

Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome
por: Zhu, Jun, et al.
Publicado: (2012)

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

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

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

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)

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

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

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

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array
por: Zhang, Pingping, et al.
Publicado: (2020)

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)

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

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
por: Sangu, Noriko, et al.
Publicado: (2017)

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)

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

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

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)

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

ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases
por: Wang, Xiaoyan, et al.
Publicado: (2022)

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

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)

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

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

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

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

A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations
por: Chalas, Celine, et al.
Publicado: (2020)

伴t(3;21)(q26;q22)髓系肿瘤临床分析
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)

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

Computing the Szeged and PI Indices of VC(5)C(7)[p,q] and HC(5)C(7)[p,q] Nanotubes
por: Iranmanesh, Ali, et al.
Publicado: (2008)

The Death of Dr. C. R. Coffin
Publicado: (1891)

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)

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
por: Mohamed, A. M., et al.
Publicado: (2018)

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

Cannot write session to /tmp/vufind_sessions/sess_lqe6s872fvv6a8520tf3lqf9v1