A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2015261.pdf
Reference19 articles.
1. Bonafe L, Cormier-Daire V, Hall C et al: Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A 2015, ; e-pub ahead of print 23 September 2015; doi:10.1002/ajmg.a.37365.
2. Kim OH, Cho TJ, Song HR et al: A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. Skelet Radiol 2009; 38: 803–811.
3. Boyden ED, Campos-Xavier AB, Kalamajski S et al: Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet 2011; 89: 767–772.
4. Min BJ, Kim N, Chung T et al: Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. Am J Hum Genet 2011; 89: 760–766.
5. Nakajima M, Mizumoto S, Miyake N et al: Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 2013; 92: 927–934.
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1. Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro;Molecular Biology Reports;2024-02-02
2. Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment;Journal of Bone and Mineral Research;2024-01-04
3. The exocyst complex in neurological disorders;Human Genetics;2023-04-22
4. The exocyst complex is an essential component of the mammalian constitutive secretory pathway;Journal of Cell Biology;2023-03-15
5. Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3;Human Mutation;2022-10-08
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