Last Posted: Mar 09, 2023
- Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.
Okamoto Nobuhiko, et al. Congenital anomalies 2017 0 (3) 105-107
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten Till, et al. European journal of human genetics : EJHG 2018 0 (8) 1083-1093
- SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome.
Reed Leighton, et al. International journal of pediatric otorhinolaryngology 2019 0 109735
- Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.
Lian Sophie, et al. Journal of the neurological sciences 2020 0 116819
- Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
Qian Yanyan, et al. Journal of autism and developmental disorders 2021 0 (11) 5033-5041
- Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
Lee Yena, et al. BMC medical genomics 2021 0 (1) 254
- Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Vasko Ashley, et al. Genes 2021 0 (6)
- Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.
Cho Chih-Yi, et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2021 0 (1 Pt 1) 218-226
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.
Belanger Deloge Raymond, et al. European journal of human genetics : EJHG 2022 0
- [Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].
Xiang Yanbao, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 0 (3) 282-285
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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, 2023
- Page last updated:Jun 06, 2023
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