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Page 1
Skeletal dysplasias.
Krakow D. Krakow D. Clin Perinatol. 2015 Jun;42(2):301-19, viii. doi: 10.1016/j.clp.2015.03.003. Epub 2015 Apr 8. Clin Perinatol. 2015. PMID: 26042906 Free PMC article. Review.
Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.
Husar-Memmer E, Ekici A, Al Kaissi A, Sticht H, Manger B, Schett G, Zwerina J. Husar-Memmer E, et al. Semin Arthritis Rheum. 2013 Feb;42(4):355-60. doi: 10.1016/j.semarthrit.2012.05.002. Epub 2012 Jun 19. Semin Arthritis Rheum. 2013. PMID: 22717203 Review.
Reviewing the literature, we discuss the clinical spectrum of type II collagenopathies emphasizing premature OA as the sole clinical manifestation. CONCLUSIONS: Unusual clinical presentations of OA should prompt investigations to search for an underlying cause. T …
Reviewing the literature, we discuss the clinical spectrum of type II collagenopathies emphasizing premature OA as the sole cl …
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B, Zhang Y, Wu N, Li J, Liu H, Wang J. Zhang B, et al. Clin Genet. 2020 Mar;97(3):383-395. doi: 10.1111/cge.13680. Epub 2019 Dec 6. Clin Genet. 2020. PMID: 31758797 Review.
The COL2A1 gene encodes the alpha-1 chain of type II procollagen. Type II collagen, comprised of three identical alpha-1 chains, is the major component of cartilage. COL2A1 gene variants are the etiologies of genetic diseases, termed type II collagenopathi …
The COL2A1 gene encodes the alpha-1 chain of type II procollagen. Type II collagen, comprised of three identical alpha-1 chain …
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H. Higuchi Y, et al. J Med Case Rep. 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y. J Med Case Rep. 2017. PMID: 28841907 Free PMC article. Review.
BACKGROUND: Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. ...Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndr …
BACKGROUND: Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with …
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. Eur J Pediatr. 1994. PMID: 8157027 Review.
Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondyloepip …
Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical enti …
The cervical spine in the skeletal dysplasias and associated disorders.
Lachman RS. Lachman RS. Pediatr Radiol. 1997 May;27(5):402-8. doi: 10.1007/s002470050156. Pediatr Radiol. 1997. PMID: 9133351 Review.
There may be abnormal development of the "vertebrae" in this region, ranging from hypoplasia to developmental failure and/or abnormal ossification of the cervical vertebrae; associated or unassociated odontoid hypoplasia; poor ligamental fixation of C2 resulting in C1-2 su …
There may be abnormal development of the "vertebrae" in this region, ranging from hypoplasia to developmental failure and/or abnormal ossifi …
Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.
Spranger J. Spranger J. J Inherit Metab Dis. 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926. J Inherit Metab Dis. 2001. PMID: 11405334 Review.
On the other hand, seemingly disparate disorders have been shown to be pathogenetically related and to be variable expressions of common defects. Examples are the mucopolysaccharidoses and type II collagenopathies. Disease recognition through splitting and lumping h …
On the other hand, seemingly disparate disorders have been shown to be pathogenetically related and to be variable expressions of common def …