Rubinstein-Taybi Syndrome: spectrum of <it>CREBBP </it>mutations in Italian patients
<p>Abstract</p> <p>Background</p> <p>Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors...
Main Authors: | , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2006-10-01
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Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/7/77 |