Associated Papers
Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
Helvacıoğlu D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y et al.
Bmc Medical Genomics, 2023
38062428 (PubMed )
Supplement: 12920_2023_1753_MOESM2_ESM.xlsx › Sheet1
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
Cao Y et al.
Molecular Genetics & Genomic Medicine, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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