Cargando…

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present...

Descripción completa

Detalles Bibliográficos
Autores principales:	López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839060/ https://www.ncbi.nlm.nih.gov/pubmed/29506490 http://dx.doi.org/10.1186/s12881-018-0548-2

Ejemplares similares

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
por: Pérez‐Grijalba, Virginia, et al.
Publicado: (2019)

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
por: López, María, et al.
Publicado: (2016)

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
por: Wincent, Josephine, et al.
Publicado: (2015)

Rubinstein–Taybi syndrome
por: Ravella, Ranjith, et al.
Publicado: (2020)

Rubinstein-Taybi syndrome with scoliosis
por: Tatara, Yasunori, et al.
Publicado: (2011)

Rubinstein–Taybi Syndrome with Psychosis
por: Nayak, Raghavendra B., et al.
Publicado: (2012)

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
por: Bentivegna, Angela, et al.
Publicado: (2006)

Management of Anesthesia for Rubinstein-Taybi syndrome
por: Park, Cheon-Hee, et al.
Publicado: (2012)

Barrett's Esophagus in Rubinstein-Taybi Syndrome
por: Kumar, Prabhat, et al.
Publicado: (2020)

Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children
por: Du, Caiqi, et al.
Publicado: (2023)

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report
por: Al-Qattan, Mohammad M., et al.
Publicado: (2019)

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
por: Park, Jong Eun, et al.
Publicado: (2021)

Rubinstein-Taybi Syndrome: A Case Report
por: Münevveroglu, A. P., et al.
Publicado: (2012)

Rubinstein–Taybi syndrome with agenesis of corpus callosum
por: Mishra, Shubhankar, et al.
Publicado: (2015)

Keloids: An Unwanted Spontaneity in Rubinstein-Taybi Syndrome
por: Shilpashree, P, et al.
Publicado: (2015)

Benign and malignant tumors in Rubinstein–Taybi syndrome
por: Boot, Max V., et al.
Publicado: (2018)

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
por: Bueno, Ana Laura Andrade, et al.
Publicado: (2020)

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
por: Bai, Zhouxian, et al.
Publicado: (2023)

Septate Uterus in a Girl with Rubinstein–Taybi Syndrome
por: de Castro Coelho, Filipa, et al.
Publicado: (2018)

Rubinstein-Taybi Syndrome: A Rare Case Report
por: Tomar, Suyash S., et al.
Publicado: (2020)

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
por: Van Gils, Julien, et al.
Publicado: (2021)

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
por: Huang, Xiaoyu, et al.
Publicado: (2023)

Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
por: Jacobs, David J, et al.
Publicado: (2012)

Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
por: Choi, Naye, et al.
Publicado: (2021)

Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome
por: Aghaei-Moghadam, Ehsan, et al.
Publicado: (2013)

Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
por: Kumar, Suresh, et al.
Publicado: (2012)

Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome
por: Loomba, Rohit S, et al.
Publicado: (2015)

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
por: Milani, Donatella, et al.
Publicado: (2015)

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
por: Olyaei, Yasamin, et al.
Publicado: (2017)

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
por: Hadzsiev, Kinga, et al.
Publicado: (2019)

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
por: Wu, Yueheng, et al.
Publicado: (2020)

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature
por: Awan, Neelam, et al.
Publicado: (2022)

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
por: Qu’d, Dima, et al.
Publicado: (2023)

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
por: de Thonel, Aurélie, et al.
Publicado: (2022)

Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy
por: Darlong, Vanlal, et al.
Publicado: (2014)

Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome
por: Bienias, Wojciech, et al.
Publicado: (2015)

Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent
por: Zavras, Nick, et al.
Publicado: (2016)

Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein–Taybi Syndrome
por: Di Fede, Elisabetta, et al.
Publicado: (2021)

Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery
por: Au Yong, Phui Sze, et al.
Publicado: (2020)

A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome
por: Kawano, Yusuke, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_kuhi0a4159rlpb2qniht39i7ic