Article
The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.
Endocrine, metabolic & immune disorders drug targets - 1 Jan 2021
Safarirad Molood, Ganji Ali Abbaszadeh, Fekrvand Saba, Yazdani Reza, Motlagh Ahmad Vosughi, Abolhassani Hassan, Aghamohammadi Asghar
Abstract excerpt
Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids, long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the...
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