Associated Papers
Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?
Biancotto G et al.
Prenatal Diagnosis, 2024
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Bownass L et al.
American Journal of Medical Genetics. Part A, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor J et al.
Genome Medicine, 2019
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Inactivating PAPSS2 mutations in a patient with premature pubarche.
Noordam C et al.
The New England Journal of Medicine, 2009
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