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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The missing link between genetic association and regulatory
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
Children, Free Full-Text
Genetic association analysis of 77,539 genomes reveals rare
Extending the phenotype associated with the CSNK2A1‐related Okur
TTC5 syndrome: Clinical and molecular spectrum of a severe and
A novel rasopathy caused by recurrent de novo missense mutations
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Confirmation of a new phenotype in an individual with a variant in
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