SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects-Reference-Cited by-同舟云学术

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Published:2018-08-06 Issue:1 Volume:9 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Dubail Johanne,Huber Céline,Chantepie Sandrine,Sonntag Stephan,Tüysüz Beyhan,Mihci Ercan,Gordon Christopher T.^ORCID,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

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-018-05191-8.pdf

Reference44 articles.

1. Bonafe, L. et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am. J. Med. Genet. A 167A, 2869–2892 (2015).

2. Ranza, E. et al. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Clin. Genet. 91, 868–880 (2016).

3. Bui, C. et al. XYLT1 mutations in Desbuquois dysplasia type 2. Am. J. Hum. Genet. 94, 405–414 (2014).

4. Huber, C. et al. Identification of CANT1 mutations in Desbuquois dysplasia. Am. J. Hum. Genet. 85, 706–710 (2009).

5. Cartault, F. et al. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. Eur. J. Hum. Genet. 23, 49–53 (2015).

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