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
PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.
Oostdijk W et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A et al.
Human Mutation, 2013
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