TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia-Reference-Cited by-同舟云学术

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

Published:2013-11-05 Issue:2 Volume:164 Page:291-304
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Alanay Yasemin¹²,Ergüner Bekir³,Utine Eda¹,Haçarız Orçun⁴,Kiper Pelin Ozlem Simsek¹,Taşkıran Ekim Zihni⁵,Perçin Ferda⁶,Uz Elif⁵⁷,Sağıroğlu Mahmut Şamil³,Yuksel Bayram⁴,Boduroglu Koray¹,Akarsu Nurten Ayse⁵

Affiliation:

1. Department of Pediatrics; Pediatric Genetics; Hacettepe University Medical Faculty; Ankara Turkey

2. Department of Pediatrics; Pediatric Genetics; Acıbadem University Medical Faculty; Istanbul Turkey

3. Information Technologies Institute; TUBITAK Marmara Research Center; Kocaeli Turkey

4. Genetic Engineering and Biotechnology Institute; TUBITAK Marmara Research Center; Kocaeli Turkey

5. Department of Medical Genetics; Gene Mapping Laboratory; Hacettepe University Medical Faculty; Ankara Turkey

6. Department of Medical Genetics; Gazi University Medical Faculty; Ankara Turkey

7. Department of Molecular Biology and Genetics; Faculty of Arts and Sciences; Uludag University; Bursa Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36248/fullpdf

Reference15 articles.

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2. Cerebro-facio-thoracic dysplasia: Expanding the phenotype;Cilliers;Clin Dysmorphol,2007

3. An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation;Cortesi;Clin Dysmorphol,2013

4. A framework for variation discovery and genotyping using next-generation DNA sequencing data;De Pristo;Nat Genet,2011

5. Cerebrofaciothoracic syndrome;Guion-Almeida;Am J Med Genet,1996

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