Literature DB >> 407956

An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia".

T E Kelly, J R Lichtenstein, J P Dorst.   

Abstract

Entities:  

Mesh：

Year:  1977        PMID： 407956

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


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  2 in total

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

Authors:  Maria Francesca Bedeschi; Vera Bianchi; Barbara Gentilin; Lorenzo Colombo; Federica Natacci; Sabrina Giglio; Elena Andreucci; Laura Trespidi; Barbara Acaia; Andrea Superti Furga; Faustina Lalatta
Journal:  Orphanet J Rare Dis       Date:  2011-02-28       Impact factor: 4.123

2.  Spondyloepiphyseal dysplasia.

Authors:  J Vanĕk
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318
  2 in total

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