Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2023.1488
Abstract: This case report describes a patient diagnosed at age 13 years with glaucoma who later presented with elevated intraocular pressure, severe cupping, open iridocorneal angle, and lens dislocation. read more here.
Keywords: heterozygous ltbp2; ltbp2 mutations; mutations associated; compound heterozygous ... See more keywords
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02271-6
Abstract: A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation… read more here.
Keywords: mutation associated; knockout mutation; associated juvenile; paroxysmal dyskinesia ... See more keywords
Neurodevelopmental disorders associated with juvenile fibromyalgia
Sign Up to like & getrecommendations! Published in 2018 at "Pediatrics International"
DOI: 10.1111/ped.13696
Abstract: 1 Matsuura T, Hayashida M, Saeki I, Taguchi T. The risk factors of persistent thrombocytopenia and splenomegaly after liver transplantation. Pediatr. Surg. Int. 2010; 26: 1007–10. 2 Kim ES. Lusutrombopag: first global approval. Drugs 2016;… read more here.
Keywords: juvenile fibromyalgia; associated juvenile; disorders associated; neurodevelopmental disorders ... See more keywords