Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis-Reference-Cited by-同舟云学术

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

Published:2009-03-11 Issue:9 Volume:17 Page:1141-1147
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mari Francesca,Hermanns Pia,Giovannucci-Uzielli Maria L,Galluzzi Fiorella,Scott Daryl,Lee Brendan,Renieri Alessandra,Unger Sheila,Zabel Bernhard,Superti-Furga Andrea

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg200927.pdf

Reference18 articles.

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

3. Weedon MN, Lettre G, Freathy RM et al: A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet 2007; 39: 1245–1250.

4. Jurenka SB, Van Allen MI : Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome? Am J Med Genet 1995; 57: 6–9.

5. Friedman JM, Baross A, Delaney AD et al: Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006; 79: 500–513.

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