X-linked spondyloepiphyseal dysplasia tarda: A novelSEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations-Reference-Cited by-同舟云学术

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X-linked spondyloepiphyseal dysplasia tarda: A novelSEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations

Published:2004 Issue:1 Volume:125A Page:45-48
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bar-Yosef Udy,Ohana Eric,Hershkovitz Eli,Perlmuter Sarit,Ofir Rivka,Birk Ohad S.

Publisher

Wiley

Subject

Genetics (clinical)

Reference15 articles.

1. X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.

2. Skeletal dysplasias

3. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

4. The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family;BMC Medical Genetics;2020-05-29

2. Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL);International Journal of Endocrinology;2018-12-10

3. TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)‐associated proteins;Traffic;2018-09-24

4. A trapper keeper for TRAPP, its structures and functions;Cellular and Molecular Life Sciences;2012-06-06

5. Incidental Finding of Tc-99m MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda;Clinical Nuclear Medicine;2012-02

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