The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth-Reference-Cited by-同舟云学术

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Published:2011-01-26 Issue:5 Volume:19 Page:534-539
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lynch Sally Ann,Foulds Nicola,Thuresson Ann-Charlotte,Collins Amanda L,Annerén Göran,Hedberg Bernt-Oves,Delaney Carol A,Iremonger James,Murray Caroline M,Crolla John A,Costigan Colm,Lam Wayne,Fitzpatrick David R,Regan Regina,Ennis Sean,Sharkey Freddie

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010215.pdf

Reference12 articles.

1. Menten B, Buysse K, Zahir F et al: Osteopoikilosis, short stature & mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 2007; 44: 264–268.

2. Mari F, Hermanns P, Giovannucci-Uzielli ML et al: Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet 2009; 17: 1141–1147.

3. Buysse K, Reardon W, Mehta L et al: The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. Eur J Med Genet 2009; 52: 101–117.

4. Spengler S, Schönherr N, Binder G et al: Sub microscopic chromosomal imbalances in idiopathic Silver–Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet 2010; 47: 356–360.

5. Brook CGD, Hindmarsh PC : Clinical Pediatric Endocrinology. Blackwell Science. 4th edition 2001.

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