Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation-Reference-Cited by-同舟云学术

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

Published:2015-02-10 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Netravathi Manjunath,Kumari Renu,Kapoor Saketh,Dakle Pushkar,Dwivedi Manish Kumar,Roy Sumitabho Deb,Pandey Paritosh,Saini Jitender,Ramakrishna Anil,Navalli Devaraddi,Satishchandra Parthasarathy,Pal Pramod Kumar,Kumar Arun,Faruq Mohammed

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0151-8/fulltext.html

Reference18 articles.

1. Walne AJ, Bhagat T, Kirwan M, Gitiaux C, Desguerre I, Leonard N, et al. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013;98:334–8.

2. Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012;44:338–42.

3. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013;6:327–37.

4. Polvi A, Linnankivi T, Kivela T, Herva R, Keating JP, Makitie O, et al. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012;90:540–9.

5. Keller RB, Gagne KE, Usmani GN, Asdourian GK, Williams DA, Hofmann I, et al. CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer. 2012;59:311–4.

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