Rubinstein-taybi Syndrome
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Last Posted: Mar 04, 2023
- [Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome].
Tang Fang, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 0 (9) 886-889 - Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.
Cucco Francesco, et al. American journal of medical genetics. Part A 2020 0 (7) 1690-1696 - The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Nishi Eriko, et al. American journal of medical genetics. Part A 2021 0 (2) 446-453 - Benign and malignant tumors in Rubinstein-Taybi syndrome.
Boot Max V, et al. American journal of medical genetics. Part A 2018 0 (3) 597-608 - High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets Illja J, et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 0 (7) 1594-1603 - Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto Yumi et al. Clinical genetics 2021 - 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 - Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.
Caffarelli Carlo et al. Italian journal of pediatrics 2016 Aug 42(1) 75 - Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Negri Gloria et al. Human genetics 2019 Feb - Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018
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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 01, 2024
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