https://pubmed.ncbi.nlm.nih.gov/33783941/
Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected...
van den endegenetic heterogeneityguptasyndrome
https://www.aafp.org/pubs/afp/issues/2012/1101/p826.html
Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the...
genetic syndromesuspectaafp
https://www.sciencealert.com/fragile-x-syndrome-new-hopes-of-treatment-for-genetic-disorder
Fragile X syndrome is a genetic disorder caused by a mutation in a gene that lies at the tip of the X chromosome.
fragile x syndromegenetic disordernewhopestreatment
https://www.mskcc.org/cancer-care/risk-assessment-screening/genetic-counseling-and-testing/hereditary-cancer-genes-and-hereditary-cancer-syndromes/lynch-syndrome
Lynch syndrome is one of the most common hereditary cancer syndromes. It is associated with colon, rectal, and many other cancers.
memorial sloan ketteringlynch syndromegenetic testingcancerscenter