Literature DB >> 657574

Familial aplasia or hypoplasia of the patella.

H S Braun.   

Abstract

A father with bilateral absence of the patella and his son with pronounced hypoplasia of the patellae are described. A possible relationship between this syndrome and hereditary osteo-onycho-dysplasia is discussed.

Entities:  

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Year:  1978        PMID： 657574     DOI： 10.1111/j.1399-0004.1978.tb01191.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

1.  Nail patella syndrome: a review of the phenotype aided by developmental biology.

Authors:  E Sweeney; A Fryer; R Mountford; A Green; I McIntosh
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

2.  Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Authors:  M Mangino; O Sanchez; I Torrente; A De Luca; F Capon; G Novelli; B Dallapiccola
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025
  2 in total

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