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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
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
RSTS Encyclopedia MDPI
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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
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
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
Filippi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Genes, Free Full-Text
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
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Glen MONROE, Postdoc, PhD, University Medical Center Utrecht, Utrecht, UMC Utrecht, Department of Medical Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Genes, Free Full-Text
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