Literature DB >> 16049536

Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child.

Tuong-Nam Nguyen1, Vazken M Der Kaloustian, Magda Barsoum-Homsy, Olga Dembinska, Robert K Koenekoop.   

Abstract

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Year:  2005        PMID： 16049536     DOI： 10.1016/S0008-4182(05)80034-1

Source DB:  PubMed          Journal:  Can J Ophthalmol        ISSN： 0008-4182            Impact factor:   1.882


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  2 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

2.  Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Authors:  Sophie Scheidecker; Christelle Etard; Laurence Haren; Corinne Stoetzel; Sarah Hull; Gavin Arno; Vincent Plagnol; Séverine Drunat; Sandrine Passemard; Annick Toutain; Cathy Obringer; Mériam Koob; Véronique Geoffroy; Vincent Marion; Uwe Strähle; Pia Ostergaard; Alain Verloes; Andreas Merdes; Anthony T Moore; Hélène Dollfus
Journal:  Am J Hum Genet       Date:  2015-03-26       Impact factor: 11.025
  2 in total

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