Literature DB >> 7180923

Autosomal recessive vitreoretinopathy and encephaloceles.

E van Nouhuys.   

Abstract

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Year:  1982        PMID： 7180923     DOI： 10.1016/0002-9394(82)90316-6

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  1 in total

1.  CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.

Authors:  Arijit Mukhopadhyay; Jamie M Kramer; Gerard Merkx; Dorien Lugtenberg; Dominique F Smeets; Merel A W Oortveld; Ellen A W Blokland; Jyoti Agrawal; Annette Schenck; Hans van Bokhoven; Erik Huys; Eric F Schoenmakers; Ad Geurts van Kessel; C Erik van Nouhuys; Frans P M Cremers
Journal:  Hum Genet       Date:  2010-06-22       Impact factor: 4.132
  1 in total

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