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Results: 5

1.

A new form or a variant of SMD type A4.

Marik I, Hudakova O, Petrasova S, Kuszel L, Czarny-Ratajczak M, Kozlowski K.

J Appl Genet. 2012 Aug;53(3):289-94. doi: 10.1007/s13353-012-0094-0. Epub 2012 Apr 24. No abstract available.

PMID:
22528043
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.

Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S.

Am J Med Genet A. 2007 Jan 15;143(2):161-7.

PMID:
17163530
[PubMed - indexed for MEDLINE]
3.

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM.

QJM. 2003 Sep;96(9):663-71.

PMID:
12925722
[PubMed - indexed for MEDLINE]
Free Article
4.

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.

Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, Wooding C, Thakker RV.

J Bone Miner Res. 1997 Aug;12(8):1204-9.

PMID:
9258750
[PubMed - indexed for MEDLINE]
5.

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR.

Nat Genet. 1995 Sep;11(1):87-9.

PMID:
7550321
[PubMed - indexed for MEDLINE]

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