SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthes...
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
About this item
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Author / Creator
Dubail, Johanne , Huber, Céline , Chantepie, Sandrine , Sonntag, Stephan , Tüysüz, Beyhan , Mihci, Ercan , Gordon, Christopher T. , Steichen-Gersdorf, Elisabeth , Amiel, Jeanne , Nur, Banu , Stolte-Dijkstra, Irene , van Eerde, Albertien M. , van Gassen, Koen L. , Breugem, Corstiaan C. , Stegmann, Alexander , Lekszas, Caroline , Maroofian, Reza , Karimiani, Ehsan Ghayoor , Bruneel, Arnaud , Seta, Nathalie , Munnich, Arnold , Papy-Garcia, Dulce , De La Dure-Molla, Muriel and Cormier-Daire, Valérie
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozyg...
Alternative Titles
Full title
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Authors, Artists and Contributors
Author / Creator
Huber, Céline
Chantepie, Sandrine
Sonntag, Stephan
Tüysüz, Beyhan
Mihci, Ercan
Gordon, Christopher T.
Steichen-Gersdorf, Elisabeth
Amiel, Jeanne
Nur, Banu
Stolte-Dijkstra, Irene
van Eerde, Albertien M.
van Gassen, Koen L.
Breugem, Corstiaan C.
Stegmann, Alexander
Lekszas, Caroline
Maroofian, Reza
Karimiani, Ehsan Ghayoor
Bruneel, Arnaud
Seta, Nathalie
Munnich, Arnold
Papy-Garcia, Dulce
De La Dure-Molla, Muriel
Cormier-Daire, Valérie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8bfb274a0fb7436e88718ddd08909e66
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8bfb274a0fb7436e88718ddd08909e66
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-05191-8
