Article
SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Aug 2023
Ulhaq Zulvikar Syambani, Soraya Gita Vita, Istifiani Lola Ayu, Pamungkas Syafrizal Aji, Tse William Ka Fai
Abstract excerpt
Nager syndrome (NS) is a rare disease marked with craniofacial and preaxial limb anomalies. In this report, we summarized the current evidence to determine a possible genotype-phenotype association among NS individuals. Twenty-four articles comprising of 84 NS (including 9 patients with a severe form of NS [Rodriguez syndrome]) patients were examined, of which 76% were caused by variants in SF3B4 (OMIM *605593,...
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