论文信息 - Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds - 字舞流文

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

C. Khor | S. Ikegawa | S. Siddiqi | S. Naz | J. Foo | R. Qamar | F. Hayat | N. Ain | O. Makitie | Ruqia Mehmood Baig | S. Hussain | Saad Azim | Hazrat Ullah | J. Janjua | Sumbal Khalid | M. Kausar | Hunain Fatima | Murva Mushtaq | Saad Bin Amjad | Nishimura Gen

[1] D. Sillence,et al. Nosology and classification of genetic skeletal disorders: 2019 revision , 2019, American journal of medical genetics. Part A.

[2] S. Riazuddin,et al. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred , 2016, Clinical genetics.

[3] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[4] Jing Hu,et al. SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..

[5] D. Sillence,et al. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features , 2010, American journal of medical genetics. Part A.

[6] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[7] S. Mundlos,et al. Omani‐type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3 , 2009, Clinical genetics.

[8] L. Sangiorgi,et al. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. , 2008, American journal of human genetics.

[9] S. Mundlos,et al. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[10] S. Mundlos,et al. Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement , 2004, American journal of medical genetics. Part A.

[11] Nobuyuki Kurosawa,et al. Functional Analysis of the Chondroitin 6-Sulfotransferase Gene in Relation to Lymphocyte Subpopulations, Brain Development, and Oversulfated Chondroitin Sulfates* , 2002, The Journal of Biological Chemistry.

[12] H. Kitagawa,et al. Functional expression and genomic structure of human chondroitin 6‐sulfotransferase 1 , 1998 .

[13] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..