Kabuki Syndrome
What's New
Last Posted: Mar 18, 2024
- Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 7(3) e242609 - DNA methylation signature classification of rare disorders using publicly available methylation data.
Mathis Hildonen et al. Clinical genetics 2023 - Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby Kristen et al. American journal of medical genetics. Part A 2023 - DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 - Kabuki syndrome: international consensus diagnostic criteria.
Adam Margaret P et al. Journal of medical genetics 2019 56(2) 89-95 - The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar - Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones Elizabeth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Laver Thomas W et al. Clinical endocrinology 2018 Aug - Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018 - Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.
Hu Ping et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Mar - Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paderová J et al. Clinical genetics 2016 Sep 90(3) 230-7 - What Is New in Genetics of Congenital Heart Defects?
Digilio Maria Cristina et al. Frontiers in pediatrics 2016 4120 - Kabuki syndrome
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
- Content source: