Cargando…

New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report

RATIONALE: Oculofaciocardiodental syndrome (OFCD) patients who show radiculomegaly are very rare. We treated a new OFCD patient orthodontically, and performed longitudinal observation for 30 years. New findings, termed calcified-dental-papillae (CDPs) beneath open-apices (OAs) of developing radiculo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kato, Joji, Kushima, Kazuhiko, Kushima, Fumikazu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310535/ https://www.ncbi.nlm.nih.gov/pubmed/30544426 http://dx.doi.org/10.1097/MD.0000000000013444

Ejemplares similares

Oculofaciocardiodental syndrome caused by a novel BCOR variant
por: Yamashita, Tomoyo, et al.
Publicado: (2023)

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome
por: Morgan, T. M., et al.
Publicado: (2019)

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing
por: Zhuang, Jianlong, et al.
Publicado: (2022)

Nonsyndromic Generalized Radiculomegaly of Permanent Dentition: A Rare Case Report
por: Alhussain, Mohammed, et al.
Publicado: (2022)

Bilateral Second Premolars Agenesia Together with a Unilateral Canine Radiculomegaly
por: Kemoli, Arthur Musakulu, et al.
Publicado: (2017)

A Rare Case of Nonsyndromic Generalized Radiculomegaly with a Literature Review
por: Al-Obaida, Mohammad
Publicado: (2020)

Cushing's syndrome secondary to typical pulmonary carcinoid with mutation in BCOR gene: A case report
por: Wu, Yimin, et al.
Publicado: (2017)

A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
por: Hu, Qian, et al.
Publicado: (2022)

BCOR involvement in cancer
por: Astolfi, Annalisa, et al.
Publicado: (2019)

Paediatric BCOR ‐associated sarcomas with a novel long spliced internal tandem duplication of BCOR exon 15
por: Goh, Jian Yuan, et al.
Publicado: (2022)

Molecular Identification and In Silico Protein Analysis of a Novel BCOR-CLGN Gene Fusion in Intrathoracic BCOR-Rearranged Sarcoma
por: Chang Chien, Yi-Che, et al.
Publicado: (2023)

Internal deletion of BCOR reveals a tumor suppressor function for BCOR in T lymphocyte malignancies
por: Tanaka, Tomoyuki, et al.
Publicado: (2017)

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
por: Davies, Helen R., et al.
Publicado: (2019)

The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma
por: Kang, Jin Hyun, et al.
Publicado: (2021)

Intra‐ and extra‐cranial BCOR‐ITD tumours are separate entities within the BCOR ‐rearranged family
por: Bouchoucha, Yassine, et al.
Publicado: (2022)

The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication”
por: Tauziède-Espariat, Arnault, et al.
Publicado: (2020)

ETMR-03. Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family
por: Bouchoucha, Yassine, et al.
Publicado: (2022)

BCOR mutation and TLS-ERG expression in acute myeloid leukemia with monoclonal immunoglobulinemia
por: Jin, Jingxia, et al.
Publicado: (2019)

Turner syndrome presenting with idiopathic regression: A case report
por: Mizobuchi, Kosuke, et al.
Publicado: (2022)

Dynamics of epigenetic regulator gene BCOR mutation and response predictive value for hypomethylating agents in patients with myelodysplastic syndrome
por: Li, Xiao, et al.
Publicado: (2021)

Endobronchial Lipoma: The Diagnostic Benefit of Computed Tomography Findings
por: On, Rintaro, et al.
Publicado: (2017)

BCoR-L1 variation and breast cancer
por: Lose, Felicity, et al.
Publicado: (2007)

Bcor loss perturbs myeloid differentiation and promotes leukaemogenesis
por: Kelly, Madison J., et al.
Publicado: (2019)

Rare Case of BCOR::CCNB3 Sarcoma of Bone
por: Arai, Yumi, et al.
Publicado: (2023)

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells
por: Rouhani, Foad J., et al.
Publicado: (2022)

A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment
por: Kedia, Ansh, et al.
Publicado: (2023)

BCOR-CCNB3 sarcoma arising in the proximal tibia: A case report
por: Suzuki, Kayo, et al.
Publicado: (2022)

ETMR-11. Transcriptional changes upon knockdown of alteredBCOR/BCORL1 transcripts in preclinical models of CNS embryonal tumors with BCOR-related alterations
por: Piontek, Martin, et al.
Publicado: (2022)

A retrospective study on radiological findings of diffuse pleural thickening with benign asbestos pleural effusion in Japanese cases
por: KISHIMOTO, Takumi, et al.
Publicado: (2021)

Germline ATM mutation and somatic PIK3CA and BCOR mutations found in an infant with aggressive orbital embryonal rhabdomyosarcoma
por: Jaru-ampornpan, Pimkwan, et al.
Publicado: (2021)

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration
por: Langouët, Maéva, et al.
Publicado: (2022)

Correction: BCoR-L1 variation and breast cancer
por: Lose, Felicity, et al.
Publicado: (2008)

BCOR regulates mesenchymal stem cell function by epigenetic mechanisms
por: Fan, Zhipeng, et al.
Publicado: (2009)

Fusions involving BCOR and CREBBP are rare events in infiltrating glioma
por: Pisapia, David J., et al.
Publicado: (2020)

Multiple Pseudopolyps Presenting as Reddish Nodules Are a Characteristic Endoscopic Finding in Patients with Early-stage Autoimmune Gastritis
por: Kotera, Tohru, et al.
Publicado: (2020)

Loss-of-Function Mutations of BCOR Are an Independent Marker of Adverse Outcomes in Intensively Treated Patients with Acute Myeloid Leukemia
por: Eckardt, Jan-Niklas, et al.
Publicado: (2021)

Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney
por: Roy, Angshumoy, et al.
Publicado: (2015)

BCOR-CCNB3 Fusions Are Frequent in Undifferentiated Sarcomas of Male Children
por: Peters, Tricia L., et al.
Publicado: (2014)

Endometrial stromal sarcomas with BCOR‐rearrangement harbor MDM2 amplifications
por: Kommoss, Felix KF, et al.
Publicado: (2020)

NTRK3 Overexpression in Undifferentiated Sarcomas with YWHAE and BCOR Genetic Alterations
por: Kao, Yu-Chien, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_frh162662vuprdr8c3mph5d163