| 概要 |
Alfadhel syndrome is a new syndrome characterized by dysmorphic feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine nucleotide exchange factor (GEF) that regulates small GTPases.
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| 著者 |
Asiri A, Aloyouni E, Umair M, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Almuzzaini B, Al Baz A, Alwadaani D, Nashabat M, Alfadhel M |
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