A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference13 articles.
1. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1;Ain;J. Med. Genet.,2021
2. Rhizomelic spondyloepimetaphyseal dysplasia;Bieganski;Clin. Dysmorphol.,2001
3. The skeletal manifestations of the congenital disorders of glycosylation;Coman;Clin. Genet.,2008
4. The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings;Fanconi;Helv. Paediatr. Acta,1983
5. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation;Geneviève;Eur. J. Hum. Genet.,2005
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1. GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker;Oncology Reports;2023-06-28
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