Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2-Reference-Cited by-同舟云学术

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Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Published:2016-11-24 Issue:3 Volume:62 Page:447-451
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Guo Long,Elcioglu Nursel H,Iida Aritoshi,Demirkol Yasemin K,Aras Seda,Matsumoto Naomichi,Nishimura Gen,Miyake Noriko,Ikegawa Shiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg2016143.pdf

Reference20 articles.

1. Bonafe, L., Cormier-Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S. et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am. J. Med. Genet. A 167, 2869–2892 (2015).

2. Huber, C., Oulès, B., Bertoli, M., Chami, M., Fradin, M., Alanay, Y. et al. Identification of CANT1 mutations in Desbuquois dysplasia. Am. J. Hum. Genet. 85, 706–710 (2009).

3. Faivre, L., Cormier-Daire, V., Eliott, A. M., Field, F., Munnich, A., Maroteaux, P. et al. Desbuquois dysplasia, a reevaluation with abnormal and ‘normal’ hands: radiographic manifestations. Am. J. Med. Genet. A 124A, 48–53 (2004).

4. Kim, O., Nishimura, G., Song, H., Matsui, Y., Sakazume, S., Yamada, M. et al. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges : report of seven cases. Am. J. Med. Genet. A 152A, 875–885 (2010).

5. Furuichi, T., Dai, J., Cho, T., Sakazume, S., Ikema, M., Matsui, Y. et al. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J. Med. Genet. 48, 32–37 (2011).

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1. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports;International Journal of Molecular Sciences;2024-09-07

2. Xylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM Reduction;Biomedicines;2024-03-04

3. Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation;Genes;2023-02-15

4. Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report;BMC Pediatrics;2022-01-26

5. Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis;Frontiers in Genetics;2021-09-03

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