Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome-Reference-Cited by-同舟云学术

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

Published:2006-03-29 Issue:6 Volume:14 Page:759-767
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Redon Richard,Baujat Geneviève,Sanlaville Damien,Le Merrer Martine,Vekemans Michel,Munnich Arnold,Carter Nigel P,Cormier-Daire Valérie,Colleaux Laurence

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201613.pdf

Reference23 articles.

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2. Douglas J, Hanks S, Temple IK et al: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003; 72: 132–143.

3. Li M, Squire JA, Weksberg R : Molecular genetics of Wiedemann–Beckwith syndrome. Am J Med Genet 1998; 79: 253–259.

4. Partington MW, Fagan K, Sonbjaki V, Turner C : Translocations involving 4p16.3 in three families: deletion causing the Pitt–Rogers–Danks syndrome and duplication resulting in a new overgrowth syndrome. J Med Genet 1997; 34: 719–728.

5. Fujita Y, Mochizuki D, Mori Y et al: Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22) (q13.1q13.2). Am J Med Genet 2000; 92: 195–199.

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