Literature DB >> 2225533

The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed.

T I Farag, A S Teebi.   

Abstract

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Mesh：

Year:  1990        PMID： 2225533

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


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  2 in total

1.  Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Authors:  Dong Li; David R Weber; Matthew A Deardorff; Hakon Hakonarson; Michael A Levine
Journal:  Eur J Hum Genet       Date:  2014-04-30       Impact factor: 4.246

Review 2.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  2 in total

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