Associated Papers
A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family.
Mustafa S et al.
Genes, 2022
Disease-Related Protein Variants of the Highly Conserved Enzyme PAPSS2 Show Marginal Stability and Aggregation in Cells.
Brylski O et al.
Frontiers in Molecular Biosciences, 2022
Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.
Eltan M et al.
Hormone Research in Paediatrics, 2019
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
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A et al.
Human Mutation, 2013
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.
Tüysüz B et al.
American Journal of Medical Genetics. Part A, 2013
PAPSS2 mutations cause autosomal recessive brachyolmia.
Miyake N et al.
Journal of Medical Genetics, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Inactivating PAPSS2 mutations in a patient with premature pubarche.
Noordam C et al.
The New England Journal of Medicine, 2009
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