Casarubinstein síndrome

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

Por um escritor misterioso
Last updated 22 dezembro 2024
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints - ScienceDirect
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
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
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) 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
William Newman
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
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
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
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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