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A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in .

作者信息

Fukuma Mami, Takagi Masaki, Shimazu Tomoyuki, Imamura Hoseki, Yagi Hiroko, Nishimura Gen, Hasegawa Tomonobu

机构信息

Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

出版信息

Clin Pediatr Endocrinol. 2018;27(3):193-196. doi: 10.1297/cpe.27.193. Epub 2018 Jul 31.

DOI:10.1297/cpe.27.193
PMID:30083037
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6073055/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/6073055/f0af4fa33503/cpe-27-193-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/6073055/dbed8e8be683/cpe-27-193-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/6073055/f0af4fa33503/cpe-27-193-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/6073055/dbed8e8be683/cpe-27-193-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/6073055/f0af4fa33503/cpe-27-193-g002.jpg

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本文引用的文献

1
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.Sedlin通过调节Sar1循环来控制前胶原的内质网输出。
Science. 2012 Sep 28;337(6102):1668-72. doi: 10.1126/science.1224947.
2
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
Hum Mutat. 2004 Jul;24(1):103. doi: 10.1002/humu.9254.
3
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.导致X连锁迟发性脊椎骨骺发育不良的基因（SEDL）的鉴定。
模拟人类遗传性骨骼疾病的小鼠模型的高保真度。
Front Endocrinol (Lausanne). 2020 Feb 4;10:934. doi: 10.3389/fendo.2019.00934. eCollection 2019.
Nat Genet. 1999 Aug;22(4):400-4. doi: 10.1038/11976.
4
X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.X连锁隐性迟发性脊椎骨骺发育不良。一个6代家系的临床和影像学演变及文献复习。
Medicine (Baltimore). 1999 Jan;78(1):9-25. doi: 10.1097/00005792-199901000-00002.