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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Last updated 20 janeiro 2025
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
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