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 09 abril 2025


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

The novel and recurrent variants in exon 31 of CREBBP in Japanese
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing

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

Community‐based recruitment and exome sequencing indicates high

Novel exon-skipping variant disrupting the basic domain of HCFC1

A novel rasopathy caused by recurrent de novo missense mutations

Effectiveness of exome and genome sequencing guided by acuity of

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

Novel CLTC variants cause new brain and kidney phenotypes

A Novel Channelopathy in Pulmonary Arterial Hypertension

Novel CLTC variants cause new brain and kidney phenotypes

Menke-Hennekam syndrome
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