Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis-Reference-Cited by-同舟云学术

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Published:2013-11-10 Issue:1 Volume:46 Page:61-64
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Weedon Michael N, ,Cebola Inês,Patch Ann-Marie,Flanagan Sarah E,De Franco Elisa,Caswell Richard,Rodríguez-Seguí Santiago A,Shaw-Smith Charles,Cho Candy H-H,Allen Hana Lango,Houghton Jayne A L,Roth Christian L,Chen Rongrong,Hussain Khalid,Marsh Phil,Vallier Ludovic,Murray Anna,Ellard Sian,Ferrer Jorge,Hattersley Andrew T

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2826.pdf

Reference41 articles.

1. Lango Allen, H. et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat. Genet. 44, 20–22 (2012).

2. De Franco, E. et al. GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes 62, 993–997 (2013).

3. Sellick, G.S. et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat. Genet. 36, 1301–1305 (2004).

4. Tutak, E. et al. A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. Genet. Couns. 20, 147–152 (2009).

5. Al-Shammari, M., Al-Husain, M., Al-Kharfy, T. & Alkuraya, F.S. A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin. Genet. 80, 196–198 (2011).

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