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

Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome

The novel and recurrent variants in exon 31 of CREBBP in Japanese

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Genotype–phenotype specificity in Menke–Hennekam syndrome caused

Genotype–phenotype specificity in Menke–Hennekam syndrome caused

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The novel and recurrent variants in exon 31 of CREBBP in Japanese

The novel and recurrent variants in exon 31 of CREBBP in Japanese