The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
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Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Novel NTRK1 mutations in Chinese patients with congenital
Clinical exome sequencing identifies novel CREBBP variants in 18
Genomic profiling of 553 uncharacterized neurodevelopment patients
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
Further delineation of an entity caused by CREBBP and EP300
Association of novel mutation in TRPV4 with familial nonsyndromic
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Trio‐whole‐exome sequencing and preimplantation genetic diagnosis
The missing link between genetic association and regulatory
Extending the phenotype associated with the CSNK2A1‐related Okur
Facial morphology of the presently described patient with the
TTC5 syndrome: Clinical and molecular spectrum of a severe and
