About 398 results

ALLMedicine™ Kabuki Syndrome Center

Research & Reviews  157 results

Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndro...
American Journal of Medical Genetics. Part A; Montano C, Britton JF et. al.

Apr 7th, 2022 - Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers KMT2D and...

Bate palmas mutant mice as a model of Kabuki syndrome: Higher susceptibility to infecti...
Journal of Neuroscience Research; Kirsten TB, Silva EP et. al.

Apr 2nd, 2022 - The recessive mutant mouse bate palmas (bapa) arose from N-ethyl-N-nitrosourea mutagenesis. Previous studies of our group revealed some behavioral impairments and a mutation in the lysine (K)-specific methyltransferase 2D (Kmt2d) gene. Because mut...

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of...
American Journal of Medical Genetics. Part A; Tharreau M, Garde A et. al.

Jan 22nd, 2022 - Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of...

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabu...
American Journal of Medical Genetics. Part A; Marwaha A, Costain G et. al.

Jan 20th, 2022 - Kabuki syndrome (KS) is a neurodevelopmental disorder characterized by hypotonia, intellectual disability, skeletal anomalies, and postnatal growth restriction. The characteristic facial appearance is not pathognomonic for KS as several other cond...

Near complete deletion of KMT2D in a college student.
American Journal of Medical Genetics. Part A; Gooch C, Souder JP et. al.

Jan 19th, 2022 - Pathogenic variants in KMT2D are typically associated with Kabuki syndrome (KS), a rare multisystem disorder. KS is characterized by facial dysmorphisms, intellectual disability, skeletal and dermatoglyphic differences, and poor growth. Seventy pe...

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News  1 results

NORD Welcomes All Things Kabuki as New Member

Aug 9th, 2017 - All Things Kabuki , an organization providing awareness, education, and support on behalf of those affected by Kabuki syndrome, is NORD’s newest member organization. Read NORD’s Rare Disease Database report on Kabuki syndrome.

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Patient Education  1 results

Horseshoe Kidney (Renal Fusion): What Is It, Symptoms, Complicati

Aug 17th, 2021 - Overview What is a horseshoe kidney? Horseshoe kidney, also called renal fusion, is when two kidneys are fused or joined together. They form a shape like a horseshoe. A horseshoe kidney is also in a different location compared to two typical kidne...

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