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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Veröffentlicht in:	American journal of human genetics 2011-12, Vol.89 (6), p.760-766
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Amino Acid Motifs Animals Biological and medical sciences Case-Control Studies Child Child, Preschool Deformities DNA-Binding Proteins - chemistry DNA-Binding Proteins - genetics Exome Female Fundamental and applied biological sciences. Psychology Gene Expression General aspects. Genetic counseling Genetic Association Studies Genetics of eukaryotes. Biological and molecular evolution Genotype Humans Joint Dislocations - congenital Joint Dislocations - genetics Joint Instability - genetics Joints Kinesin - chemistry Kinesin - genetics Male Medical genetics Medical sciences Mice Middle Aged Molecular and cellular biology Molecular Dynamics Simulation Mutation Mutation, Missense Organ Specificity Osteochondrodysplasias - genetics Pedigree Polymorphism, Single Nucleotide Proteins Sequence Analysis, DNA Spine
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