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
Por um escritor misterioso
Last updated 10 abril 2025


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

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

Extending the phenotype associated with the CSNK2A1‐related Okur

De novo ANKRD11 and KDM1A gene mutations in a male with features

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

Genotype–phenotype specificity in Menke–Hennekam syndrome caused

Facial morphology of the presently described patient with the

Okamoto syndrome has features overlapping with Au–Kline syndrome

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

Consolidating the association of biallelic MAPKAPK5 pathogenic
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