Rubinstein-Taybi syndrome

OMIM:180849
Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	CREBBP
Reference transcript	NM_004380.2
DNA Change	c.4361T>A
A.A. Change	p.Leu1454His
Exon/Intron	exon 26
Mutation Type	substitution
Reference	Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A.Germline mosaicism in Rubinstein-Taybi syndrome. Gene. 2013 Jan 23. pii: S0378-1119(13)00043-7.

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