Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 25 dezembro 2024
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
PDF) Clinical exome sequencing identifies novel CREBBP variants in
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
Mosaic CREBBP mutation causes overlapping clinical features of
Rubinstein–Taybi syndrome in diverse populations - Tekendo
PDF) Rubinstein-Taybi syndrome in diverse populations
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Diagnosis and management of Cornelia de Lange syndrome: first
PDF) Clinical exome sequencing identifies novel CREBBP variants in
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Rubinstein–Taybi syndrome: clinical and molecular overview
Mosaic CREBBP mutation causes overlapping clinical features of
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