Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome-Reference-Cited by-同舟云学术

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome

Published:2011-01 Issue:1 Volume:54 Page:89-93
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Naik Swati,Riordan-Eva Elliott,Thomas N. Simon,Poole Rebecca,Ashton Mark,Crolla John A.,Temple I. Karen

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference21 articles.

1. Chromosome 7p-syndrome: craniosynostosis with preservation of region 7p2;Aughton;Am. J. Med. Genet.,1991

2. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion;Blagitko;Hum. Mol. Genet.,2000

3. Six cases of 7p deletion: clinical, cytogenetic, and molecular studies;Chotai;Am. J. Med. Genet.,1994

4. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients;Garin;Clin. Endocrinol. (Oxford).,2008

5. Grb10 and Grb14: enigmatic regulators of insulin action – and more?;Holt;Biochem. J.,2005

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