Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome-Reference-Cited by-同舟云学术

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Published:2004-04 Issue:4 Volume:74 Page:715-720
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Baujat Geneviève,Rio Marlène,Rossignol Sylvie,Sanlaville Damien,Lyonnet Stanislas,Le Merrer Martine,Munnich Arnold,Gicquel Christine,Cormier-Daire Valérie,Colleaux Laurence

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. The product of the H19 gene may function as a RNA;Brannan;Mol Cell Biol,1990

2. Sotos syndrome;Cole;J Med Genet,1990

3. Sotos syndrome: a study of the diagnostic criteria and natural history;Cole;J Med Genet,1994

4. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes;Douglas;Am J Hum Genet,2003

5. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases;Elliott;Clin Genet,1994

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