Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 22 fevereiro 2025
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Microdeletions and mutations of CREBBP (CBP) gene can cause
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Further delineation of an entity caused by CREBBP and EP300
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PDF) Rubinstein-Taybi syndrome in diverse populations
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Genetic Basis for Congenital Heart Disease: Revisited: A
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange
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Rubinstein–Taybi syndrome in diverse populations - Tekendo
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PDF) Clinical exome sequencing identifies novel CREBBP variants in
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PDF) Clinical exome sequencing identifies novel CREBBP variants in
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Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
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Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
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