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Quoted phrase not found in phrase index: "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"
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A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS. Abdul Wahab A, et al. Acta Paediatr. 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. Acta Paediatr. 2003. PMID: 12801113
These patients are at risk for potentially catastrophic arterial rupture. Linkage to the major loci involved in Ehlers-Danlos syndrome and other connective tissue disorders, such as Cutis Laxa, Familial Aneurysm, and Osteogenesis imperfecta, was …
These patients are at risk for potentially catastrophic arterial rupture. Linkage to the major loci involved in Ehlers-Danlos …
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC. Cabral WA, et al. Hum Mutat. 2007 Apr;28(4):396-405. doi: 10.1002/humu.20456. Hum Mutat. 2007. PMID: 17206620
The most common mutations in type I collagen causing types II-IV osteogenesis imperfecta (OI) result in substitution for glycine in a Gly-Xaa-Yaa triplet by another amino acid. We delineated a Y-position substitution in a small pedigree with a combined OI/ …
The most common mutations in type I collagen causing types II-IV osteogenesis imperfecta (OI) result in substitution for glyci …