Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type-Reference-Cited by-同舟云学术

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

Published:2011-12 Issue:6 Volume:89 Page:760-766
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations;Hall;J. Med. Genet.,1998

2. A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form);Rossi;Clin. Dysmorphol.,2005

3. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): Three further cases and evidence of autosomal dominant inheritance;Hall;J. Med. Genet.,2002

4. Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: Report of a new patient and review of the literature;Mégarbané;Am. J. Med. Genet. A.,2003

5. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients;Nishimura;Am. J. Med. Genet. A.,2003

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