Results 21 to 30 of about 2,580 (168)

Kabuki syndrome revisited [PDF]

Journal of Human Genetics, 2012
Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32 000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition.
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Kabuki syndrome

Clinical Dysmorphology, 2015
Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A.
Matt Morgan, Yuranga Weerakkody
openaire   +4 more sources

An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome

Erciyes Medical Journal, 2020
Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency that arises from defects in the NADPH oxidase complex, primarily affecting the respiratory burst in neutrophils.
Mustafa Yavuz Köker, Zeynep Türe, Nezihe Köker, Gökhan Metan   +3 more
doaj   +1 more source

Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations

Platelets, 2023
Kabuki syndrome (KS) is a rare multisystem-affecting genetic disorder, and usually accompanied with autoimmune disorders such as immune thrombocytopenic purpura (ITP).
Peng Peng, Ying Pan, Xueqing Lu, Hui Xu, Ziwei Zhou, Yuanqing He, Huiru Wang, Changcheng Zheng, Li Zhou   +8 more
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Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

Frontiers in Genetics, 2017
We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy.
Sonoko Sakata, Satoshi Okada, Kohei Aoyama, Keiichi Hara, Chihiro Tani, Reiko Kagawa, Akari Utsunomiya-Nakamura, Shinichiro Miyagawa, Shinichiro Miyagawa, Tsutomu Ogata, Haruo Mizuno, Haruo Mizuno, Masao Kobayashi   +12 more
doaj   +1 more source

Kabuki Syndrome: a case report with severe ocular abnormalities

Revista Brasileira de Oftalmologia, 2013
Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency ...
Flavio Mac Cord Medina, Pamela Rodriguez, Renata Tavares de Souza Cabral, Marcia Brazuna de Castro, Juan Clinton Llerena Junior, Ricardo Miguel Japiassú   +5 more
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Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

Orphanet Journal of Rare Diseases, 2021
Background Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used in a Japanese traditional ...
Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia   +12 more
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A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures

The Turkish Journal of Pediatrics, 2016
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur.
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu   +3 more
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Attention challenges in Kabuki syndrome. [PDF]

J Intellect Disabil Res, 2023
AbstractBackgroundUnderstanding the specific neurobehavioural profile of rare genetic diseases enables clinicians to provide the best possible care for patients and families, including prognostic and treatment advisement. Previous studies suggested that a subset of individuals with Kabuki syndrome (KS), a genetic disorder causing intellectual ...
Kalinousky AJ, Rapp T, Harris JR.
europepmc   +3 more sources

Kabuki syndrome

Pediatric Hematology/Oncology and Immunopathology, 2017
Kabuki syndrome (KS) is a rare inherited disease that consists of a specific morphological changes in the face, short stature, various organ malformations, variable degree of intellectual disability. Mutations in KMT2D gene have been identified as the main cause for KS type 1 (KS type 1 about 70% of patients), whereas mutations in KDM6A gene causes KS ...
I. V. Kondratenko, E. N. Suspitsin, S. S. Vakhlyarskaya, A. A. Bologov, E. N. Imyanitov   +4 more
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