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Apr 24, 2024 · Background Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the skin and hair. Variants in the sex-determining region Y-box containing gene 10 (SOXl0) gene may cause congenital deafness and have been demonstrated to be important during the ...
May 2, 2024 · Waardenburg syndrome (1 in 40,000 people) A person has a low concentration of melanin pigment, characterized by very light blue or different-colored eyes (partial albinism) Horner’s syndrome (1.42 per 100,000 people under 19) A symptom of Horner’s syndrome is when the iris of the affected eye takes a lighter color (iris heterochromia)
3 days ago · Joint hypermobility syndrome, a.k.a double-jointedness, isn’t an unusual genetic condition. Still, there is more to it than meets the eye. The National Library of Medicine noted that joint hypermobility syndrome could be a precursor to more serious conditions like Ehlers-Danlos syndrome. Like Marfan syndrome, it affects the body’s ...
Apr 20, 2024 · Objectives This study aimed to identify the causative variants in a patient with Waardenburg syndrome (WS) type 2 using whole exome sequencing (WES). Methods The clinical features of the patient were collected. WES was performed on the patient and his parents to screen causative genetic variants and Sanger sequencing was performed to validate the candidate mutation. The AlphaFold2 software was ...
- Zhongxia Li
3 days ago · Spread the loveWe have all seen people with unique physical traits, whether it’s an atypical birthmark or unusually shaped ears. More often than not, these are due to special conditions that highlight the intricacy of the human body. The photos you’re about to see are from people who drew wild cards in the genetic lottery. […]
Apr 13, 2024 · While Ozempic is intended for people living with type 2 diabetes, its qualities promoting weight loss have made it popular among celebrities. The active ingredient in Ozempic is a molecule called ...
6 days ago · At least one prolific and well-known blogger, Robert Chaen, speculates that the following famous people have (or had) schizoid personality disorder or least exhibited symptoms of schizoid personality disorder: Albert Einstein. Peter Green. Mary Todd Lincoln. Vaclav Nijinsky.
