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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Novel exon-skipping variant disrupting the basic domain of HCFC1
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
The novel and recurrent variants in exon 31 of CREBBP in Japanese
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Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Three-Generation Family With Congenital Central Hypoventilation
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TTC5 syndrome: Clinical and molecular spectrum of a severe and
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