Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Short Report European Journal of Human Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
PDF) Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Filippi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Figure 1 from Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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