Robinow Syndrome
What's New
Last Posted: Mar 04, 2023
- Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
Yang Kai, et al. Journal of clinical laboratory analysis 2019 0 (2) e23074 - Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.
Niskanen Julia E, et al. Human genetics 2021 0 (11) 1535-1545 - Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima Ariadne R, et al. Human mutation 2022 0 (7) 900-918 - Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang Chaofan, et al. HGG advances 2022 0 (1) 100074 - Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Zhang Chaofan, et al. American journal of medical genetics. Part A 2020 10 - Robinow 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 01, 2024
- Content source: