Associated Papers
Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA et al.
Genes, 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
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.
Zhao J et al.
Journal of Clinical Laboratory Analysis, 2020
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
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
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Petit F et al.
Clinical Genetics, 2014
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2014
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC et al.
Human Genetics, 2013
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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