Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
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The Regulation of Steroid Action by Sulfation and DesulfationHuman genetic disorders and knockout mice deficient in glycosaminoglycanSex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis.PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity GeneThe Genetics of Physical Activity.Genetic Determinants for Leisure-Time Physical Activity.Autosomal recessive brachyolmia: early radiological findings.
P2860
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P2860
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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name
Clinical and radiographic feat ...... ia caused by PAPSS2 mutations.
@en
Clinical and radiographic feat ...... ia caused by PAPSS2 mutations.
@nl
type
label
Clinical and radiographic feat ...... ia caused by PAPSS2 mutations.
@en
Clinical and radiographic feat ...... ia caused by PAPSS2 mutations.
@nl
prefLabel
Clinical and radiographic feat ...... ia caused by PAPSS2 mutations.
@en
Clinical and radiographic feat ...... ia caused by PAPSS2 mutations.
@nl
P2093
P2860
P356
P1433
P1476
Clinical and radiographic feat ...... mia caused by PAPSS2 mutations
@en
P2093
Aritoshi Iida
Eva Horemuzova
Gen Nishimura
Gozde Yesil
Gülen Eda Utine
Hirofumi Ohashi
Hülya Kayserili
Kazuyuki Sugahara
Koray Boduroglu
Nursel Elcioglu
P2860
P304
P356
10.1002/HUMU.22377
P577
2013-07-26T00:00:00Z