Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. Its causative gene mutation has not yet been...

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Hlavní autoři: Min, Byung-Joo, Kim, Namshin, Chung, Taesu, Kim, Ok-Hwa, Nishimura, Gen, Chung, Chin Youb, Song, Hae Ryong, Kim, Hyun Woo, Lee, Hye Ran, Kim, Jiwoong, Kang, Tae-Hoon, Seo, Myung-Eui, Yang, San-Deok, Kim, Do-Hwan, Lee, Seung-Bok, Kim, Jong-Il, Seo, Jeong-Sun, Choi, Ji-Yeob, Kang, Daehee, Kim, Dongsup, Park, Woong-Yang, Cho, Tae-Joon
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234366/
https://ncbi.nlm.nih.gov/pubmed/22152677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.10.015
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