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Results: 5

1.

Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.

Zhang Z, Zhao SC, He JW, Fu WZ, Zhang CQ, Zhang ZL.

Gene. 2013 Jun 10;522(1):107-10. doi: 10.1016/j.gene.2013.03.083. Epub 2013 Mar 29.

PMID:
23545312
[PubMed - indexed for MEDLINE]
2.

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.

Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G.

Am J Med Genet A. 2012 Aug;158A(8):1948-52. doi: 10.1002/ajmg.a.35301. Epub 2012 Apr 11.

PMID:
22495950
[PubMed - indexed for MEDLINE]
3.

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F.

Orphanet J Rare Dis. 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7.

PMID:
21356074
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Czech dysplasia metatarsal type: another type II collagen disorder.

Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR.

Eur J Hum Genet. 2007 Dec;15(12):1269-75. Epub 2007 Aug 29.

PMID:
17726487
[PubMed - indexed for MEDLINE]
Free Article
5.

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A.

Am J Med Genet A. 2005 Feb 15;133A(1):61-7.

PMID:
15643621
[PubMed - indexed for MEDLINE]

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