Literature DB >> 3742853

Heterozygote expression in Grebe chondrodysplasia.

D Curtis.   

Abstract

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Year:  1986        PMID： 3742853     DOI： 10.1111/j.1399-0004.1986.tb00522.x

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


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  3 in total

1.  Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Authors:  Luitgard M Graul-Neumann; Alexandra Deichsel; Ulrike Wille; Naseebullah Kakar; Randi Koll; Christian Bassir; Jamil Ahmad; Valerie Cormier-Daire; Stefan Mundlos; Christian Kubisch; Guntram Borck; Eva Klopocki; Thomas D Mueller; Sandra C Doelken; Petra Seemann
Journal:  Eur J Hum Genet       Date:  2013-10-16       Impact factor: 4.246

2.  Grebe syndrome: a second case with extremely severe manifestations.

Authors:  M Rittler; S Higa
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

3.  Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

Authors:  Muhammad Faiyaz-Ul-Haque; Eissa A Faqeih; Hamad Al-Zaidan; Amal Al-Shammary; Syed H E Zaidi
Journal:  J Bone Miner Metab       Date:  2008-11-01       Impact factor: 2.626
  3 in total

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