Associated Papers
Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA et al.
Genes, 2023
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
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020
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
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray.
Lund IC et al.
European Journal of Medical Genetics, 2016
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
Pengelly RJ et al.
Clinical Genetics, 2015
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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