Article
Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery.
Endocrine, metabolic & immune disorders drug targets - 1 Jan 2023
Aminorroaya Arya, Rayzan Elham, Shahkarami Sepideh, Seyedpour Simin, Zoghi Samaneh, Aryan Zahra, Somekh Ido, Rohlfs Meino, Klein Christoph, Esmaeilzadeh Hossein, Rezaei Nima
Abstract excerpt
BACKGROUND: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder. ICF1 is caused by bi-allelic mutations in the gene encoding deoxyribonucleic acid methyltransferase-3B (DNMT3B). Herein, we report a novel homozygous DNMT3B mutation in a patient with ICF1. CASE PRESENTATION: An eight-month-old Iranian Caucasian infant of consanguineous 1st-degree...
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