Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 23 dezembro 2024
Microdeletions and mutations of CREBBP (CBP) gene can cause
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Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
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Rubinstein–Taybi syndrome associated with Chiari type I
Rubinstein–Taybi syndrome: New neuroradiological and
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