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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PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
Genetic association analysis of 77,539 genomes reveals rare
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing
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Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Novel exon-skipping variant disrupting the basic domain of HCFC1
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Consolidating the association of biallelic MAPKAPK5 pathogenic
The novel and recurrent variants in exon 31 of CREBBP in Japanese
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
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