Associated Papers
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
Ulhaq ZS et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2023
35331022 (PubMed )
Supplement: sj-xlsx-1-cpc-10.1177_10556656221089156.xlsx › Sheet1
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Marques F et al.
Plos Genetics, 2016
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Petit F et al.
Clinical Genetics, 2014
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Bernier FP et al.
American Journal of Human Genetics, 2012
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