Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference32 articles.
1. Dandy-Walker malformation in Rubinstein-Taybi syndrome: A rare association 1;Agarwal;Clin Dysmorphol,2002
2. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2;Ballif;Clin Genet,2008
3. Proceedings: Rubinstein-Taybi syndrome;Barson;Arch Dis Child,1974
4. FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy;Bartsch;Eur J Hum Genet,1999
5. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS;Bartsch;Hum Genet,2005
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