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genotype-phenotype correlation
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CREBBP
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intellectual disability
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DDD Study
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Kant, S.G.
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Menke, L.A.
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Pfundt, R.
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Tartaglia, M.
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Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Disease expression in juvenile polyposis syndrome
A mutation update for the FLNC gene in myopathies and cardiomyopathies
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype