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Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders

  • Published:2014-11-13 Issue:3 Volume:88 Page:288-292
  • ISSN:0009-9163
  • Container-title:Clinical Genetics
  • language:en
  • Short-container-title:Clin Genet

Author:

Okamoto N.1,Miya F.2,Tsunoda T.2,Kato M.3,Saitoh S.4,Yamasaki M.5,Shimizu A.6,Torii C.7,Kanemura Y.89,Kosaki K.7

Affiliation:

1. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

2. Laboratory for Medical Science Mathematics; Center for Integrative Medical Sciences, RIKEN; Yokohama Japan

3. Department of Pediatrics; Yamagata University Faculty of Medicine; Yamagata Japan

4. Department of Pediatrics and Neonatology; Nagoya City University Graduate School of Medical Sciences; Nagoya Japan

5. Department of Pediatric Neurosurgery; Takatsuki General Hospital; Osaka Japan

6. Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization; Iwate Medical University; Iwate Japan

7. Center for Medical Genetics; Keio University School of Medicine; Tokyo Japan

8. Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital; National Hospital Organization; Osaka Japan

9. Department of Neurosurgery, Osaka National Hospital; National Hospital Organization; Osaka Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome;Baraitser;J Med Genet,1988

2. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome;Tartaglia;Nat Genet,2001

3. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome;Rivière;Nat Genet,2012

4. Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations;Di Donato;Eur J Hum Genet,2014

5. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases;Verloes;Eur J Hum Genet,2014
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