Cargando…

A novel KMT2D mutation resulting in Kabuki syndrome: A case report

Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. Mutation of the lysi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lu, Jun, Mo, Guiling, Ling, Yaojun, Ji, Lijuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2016
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042757/ https://www.ncbi.nlm.nih.gov/pubmed/27573763 http://dx.doi.org/10.3892/mmr.2016.5683

Ejemplares similares

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
por: Yi, Sheng, et al.
Publicado: (2023)

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
por: Piro, Ettore, et al.
Publicado: (2020)

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
por: Luperchio, Teresa Romeo, et al.
Publicado: (2019)

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
por: Aristizábal, Erica, et al.
Publicado: (2021)

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review
por: Xin, Chengqi, et al.
Publicado: (2018)

Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome
por: Nunez Stosic, Mariana, et al.
Publicado: (2023)

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
por: Lepri, Francesca Romana, et al.
Publicado: (2017)

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
por: Sakata, Sonoko, et al.
Publicado: (2017)

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
por: Moon, Jung-Eun, et al.
Publicado: (2018)

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration
por: Schwenty-Lara, Janina, et al.
Publicado: (2020)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
por: Timothy, Leander D., et al.
Publicado: (2019)

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
por: Li, Shuolin, et al.
Publicado: (2022)

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs
por: Porntaveetus, Thantrira, et al.
Publicado: (2018)

Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners
por: Enkhmandakh, Badam, et al.
Publicado: (2022)

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
por: Cuvertino, Sara, et al.
Publicado: (2020)

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
por: Cuvertino, Sara, et al.
Publicado: (2020)

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
por: Guo, Zhimei, et al.
Publicado: (2018)

Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
por: Guo, Hong-Xian, et al.
Publicado: (2021)

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
por: Kim, Soo Jin, et al.
Publicado: (2013)

Kabuki Syndrome with Cleft Palate
por: Paik, Joo Myong, et al.
Publicado: (2016)

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
por: Micale, Lucia, et al.
Publicado: (2011)

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
por: Cappuccio, Gerarda, et al.
Publicado: (2014)

Kabuki syndrome and its anaesthetic management
por: Roy, Debashis, et al.
Publicado: (2011)

Kabuki syndrome: clinical and molecular characteristics
por: Cheon, Chong-Kun, et al.
Publicado: (2015)

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
por: Gürbüz, Fatih, et al.
Publicado: (2016)

Neurobehavioral features in individuals with Kabuki syndrome
por: Caciolo, Cristina, et al.
Publicado: (2018)

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
por: Ng, Sarah B., et al.
Publicado: (2010)

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
por: Liu, Shuang, et al.
Publicado: (2015)

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
por: Salguero, Maria V, et al.
Publicado: (2022)

Anesthesia Management in a Patient with Kabuki Syndrome
por: Atalay, Yunus Oktay, et al.
Publicado: (2014)

Kabuki Syndrome: A Rare Clinical Presentation
por: Wankar, Abhishek D.
Publicado: (2020)

Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome
por: Theodore‐Oklota, Christina, et al.
Publicado: (2020)

Spinal ependymoma in a patient with Kabuki syndrome: a case report
por: Roma, Davide, et al.
Publicado: (2015)

Capillary malformations in a child with Kabuki syndrome: A case report
por: Geers, Nikki C., et al.
Publicado: (2019)

Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
por: Kim, Nam Gil, et al.
Publicado: (2011)

Anatomical and functional abnormalities on MRI in kabuki syndrome
por: Boisgontier, Jennifer, et al.
Publicado: (2018)

Kabuki Syndrome—Clinical Review with Molecular Aspects
por: Boniel, Snir, et al.
Publicado: (2021)

Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia
por: Leonardi, Lucia, et al.
Publicado: (2023)

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
por: Shangguan, Huakun, et al.
Publicado: (2019)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
por: Mısırlıgil, Mina, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_kd3de5k8munssp6aqgt5g76dgt