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From Genotype to Phenotype-A Review of Kabuki Syndrome.
Genes (Basel)
September 2022
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including and . This review assesses our current understanding of KS, which was originally named Niikawa-Kuroki syndrome, and aims to guide surveillance and medical care of affected individuals as well as identify gaps in knowledge and unmet patient needs. Ovid MEDLINE and EMBASE databases were searched from 1981 to 2021 to identify reports related to genotype and systems-based phenotype characterization of KS.
View Article and Find Full Text PDF[Clinical and genetic analysis of a child with Niikawa-Kuroki syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2021
Department of Children's Health Care, Maternal and Child Health Care Hospital, Shaoxing, Zhejiang 312000, China.
Objective: Clinical examination and molecular genetic analysis were carried out for one case with special facial features with developmental retardation, hearing impairment and cleft lip and palate.
Methods: The intelligence test, hearing test, and MRI test were performed. At the same time, the blood were collected to detect the copy number variation of the whole genome with the chromosomal karyotype analysis and the chromosomal microarray analysis (CMA).
Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
J Intellect Disabil Res
June 2019
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Background: Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties, and most have intellectual disability. Recent studies on a mouse model of KS suggest disruption of normal adult neurogenesis in the granule cell layer of the dentate gyrus of the hippocampus.
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