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

De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG

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

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

PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case

PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case

Genotype–phenotype specificity in Menke–Hennekam syndrome caused

Genotype–phenotype specificity in Menke–Hennekam syndrome caused

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

Further delineation of an entity caused by CREBBP and EP300

Children, Free Full-Text