A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in <i>TRAPPC2</i>
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منابع مشابه
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
Masaki Takagi1, 2, Hiroko Yagi3, Yoshie Nakamura3, Hiroyuki Shinohara2, Ryojun Takeda2, Aya Shimada2, Gen Nishimura4, and Yukihiro Hasegawa2, 3 1 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2 Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Department of Genetic Research, Tokyo Metropolitan Children’s Medical...
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متن کاملCorneal changes in spondyloepiphyseal dysplasia tarda.
BACKGROUND A new type of corneal opacity with prominent corneal nerve fibers as an ocular complication of spondyloepiphyseal dysplasia tarda (SEDT). CASE A 58-year-old woman, diagnosed with SEDT at 5 years of age, underwent a complete ophthalmological examination. OBSERVATIONS The patient had no complaints and no history of eye disease. No relatives were reported to have suffered from SEDT....
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Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into...
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ژورنال
عنوان ژورنال: Clinical Pediatric Endocrinology
سال: 2018
ISSN: 0918-5739,1347-7358
DOI: 10.1297/cpe.27.193