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 29 março 2025


Facial morphology of the presently described patient with the

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

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

Further delineation of an entity caused by CREBBP and EP300

Three-Generation Family With Congenital Central Hypoventilation

Genes, Free Full-Text

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

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with

Confirmation of a new phenotype in an individual with a variant in

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
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