Cargando…

Capillary malformations in a child with Kabuki syndrome: A case report

Detalles Bibliográficos
Autores principales:	Geers, Nikki C., Thio, H. Bing, de Kort, Wim J.A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581967/ https://www.ncbi.nlm.nih.gov/pubmed/31245521 http://dx.doi.org/10.1016/j.jdcr.2019.05.004

Ejemplares similares

Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report
por: Shah, Maulik, et al.
Publicado: (2005)

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

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment
por: Siminas, Sotirios, et al.
Publicado: (2015)

Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review
por: Gole, Hobia, et al.
Publicado: (2016)

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

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
por: Kumar, Jeevan M., et al.
Publicado: (2011)

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
por: Choi, Yeon-Chul, et al.
Publicado: (2016)

Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
por: Guo, Wei, et al.
Publicado: (2020)

Carotid artery occlusion in Kabuki syndrome: Case report and literature review
por: Gatto, Luana A. M., et al.
Publicado: (2017)

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

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
por: Chen, Yi-Hsing, et al.
Publicado: (2014)

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

Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report
por: Hamdi, Talaat, et al.
Publicado: (2020)

Diabetes mellitus and insulin resistance associated with Kabuki syndrome—A case report and literature review
por: Thewjitcharoen, Yotsapon, et al.
Publicado: (2022)

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

Recurrent Dislocation of the Patella in Kabuki Make-Up Syndrome
por: Rouffiange, Lucie, et al.
Publicado: (2012)

Pulmonary hypertension— a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review
por: Deng, Xiao-xian, et al.
Publicado: (2023)

Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature
por: Dueñas-Arias, Jesus E, et al.
Publicado: (2009)

Biliary Atresia in an Infant Presenting With Kabuki Syndrome: An Autopsy Report and Review of the Literature
por: Tralongo, Pietro, et al.
Publicado: (2023)

Multiple lentigines in RASA1-associated capillary malformation-arteriovenous malformation syndrome
por: Rujiwetpongstorn, Rujira, et al.
Publicado: (2020)

Large saccular intracranial aneurysm in a child with RASA1-associated capillary malformation–arteriovenous malformation syndrome: illustrative case
por: Weinberger, Marina, et al.
Publicado: (2023)

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

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

Autoimmune haematological disorders in two Italian children with Kabuki Syndrome
por: Giordano, Paola, et al.
Publicado: (2014)

Slipped Capital Femoral Epiphysis in an Adult Patient With Kabuki Syndrome
por: Speirs, Joshua N., et al.
Publicado: (2019)

Bonebridge implantation for mixed hearing loss in a patient with Kabuki syndrome
por: Pepe, Giovanni, et al.
Publicado: (2020)

Capillary Malformation-Arteriovenous Malformation Syndrome
por: Alluhaibi, Razan, et al.
Publicado: (2021)

Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies
por: Marty, Mathieu, et al.
Publicado: (2020)

Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
por: Maffre, Irene, et al.
Publicado: (2019)

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)

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

Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome
por: Souabni, Saloua Ait, et al.
Publicado: (2023)

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

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

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)

Pyogenic granuloma arising within capillary malformations in children: A case report and literature review
por: Rancan, Alessandra, et al.
Publicado: (2021)

Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1
por: Montano, Carolina, et al.
Publicado: (2022)

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

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)

Cannot write session to /tmp/vufind_sessions/sess_1hiuqm0biof0du4koid6ic9o7s