MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia-Reference-Cited by-同舟云学术

MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia

Published:2019-11-14 Issue:3 Volume:87 Page:227-228
ISSN:0019-5456
Container-title:The Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Shyamasundar L. G.,Loganathan Lakshmi,Kumar Ashis,Selina Agnes,Madhuri Vrisha^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s12098-019-03100-5.pdf

Reference5 articles.

1. Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. J Med Genet. 2004;41:366–72.

2. Mabuchi A, Haga N, Maeda K, et al. Novel and recurrent mutations clustered in the von Willebrand factor a domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat. 2004;24:439–40.

3. Jackson GC, Barker FS, Jakkula E, et al. Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet. 2004;41:52–9.

4. Patel AC, McAlister WH, Whyte MP. Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature. Medicine (Baltimore). 1993;72:326–42.

5. Al-Gazali LI, Bakalinova D, Sztriha L. Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type. Clin Dysmorphol. 1996;5:197–206.

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