Literature DB >> 4213775

Spondyloepiphyseal dysplasia.

J Spranger, L O Langer.   

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Year:  1974        PMID: 4213775

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


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  9 in total

1.  Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families.

Authors:  J J MacDessi; K Kozlowski; S Posen
Journal:  Pediatr Radiol       Date:  1978-12-04

2.  An autosomal recessive variant of spondylo-epiphyseal dysplasia in three sibs.

Authors:  R A Pfeiffer; J Suess; M Haagen
Journal:  Pediatr Radiol       Date:  1992

3.  A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils.

Authors:  P H Byers; K A Holbrook; J G Hall; P Bornstein; J W Chandler
Journal:  Hum Genet       Date:  1978-01-19       Impact factor: 4.132

4.  An adult female with spondyloepiphyseal dysplasia tarda.

Authors:  J M Connor; D A Evans; I B Sardharwalla
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318

5.  A family with multiple musculoskeletal abnormalities.

Authors:  K E Barber; P J Gow; K M Mayo
Journal:  Ann Rheum Dis       Date:  1984-04       Impact factor: 19.103

6.  X-linked spondyloepiphyseal dysplasia tarda: mucopolysaccharide excretion studies.

Authors:  G R Thompson; D E Thompson; D S McCann; J J Weiss
Journal:  Clin Rheumatol       Date:  1982-12       Impact factor: 2.980

7.  Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Authors:  N Kaibara; K Takagishi; I Katsuki; M Eguchi; S Masumi; A Nishio
Journal:  Skeletal Radiol       Date:  1983       Impact factor: 2.199

8.  Previously unreported abnormalities of dermal basement membranes and collagen fibrils in a patient with X-linked spondyloepiphyseal dysplasia tarda.

Authors:  D Q Borsey; D Hopwood; A J Montgomery; D B Walsh; R T Jung
Journal:  Postgrad Med J       Date:  1986-10       Impact factor: 2.401

9.  Spondyloepiphyseal dysplasia tarda. The autosomal recessive form in two sisters.

Authors:  S Ikegawa
Journal:  Arch Orthop Trauma Surg       Date:  1993       Impact factor: 3.067

  9 in total

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