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Items: 3

Select item 10513671.

A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

C M Hall, N H Elçioglu, D G Shaw

J Med Genet. 1998 Jul; 35(7): 566–572. doi: 10.1136/jmg.35.7.566

PMCID:: PMC1051367

Summary Page Browse PDF–3.0M

Select item 32343662.

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

Byung-Joo Min, Namshin Kim, Taesu Chung, Ok-Hwa Kim, Gen Nishimura, Chin Youb Chung, Hae Ryong Song, Hyun Woo Kim, Hye Ran Lee, Jiwoong Kim, Tae-Hoon Kang, Myung-Eui Seo, San-Deok Yang, Do-Hwan Kim, Seung-Bok Lee, Jong-Il Kim, Jeong-Sun Seo, Ji-Yeob Choi, Daehee Kang, Dongsup Kim, Woong-Yang Park, Tae-Joon Cho

Am J Hum Genet. 2011 Dec 9; 89(6): 760–766. doi: 10.1016/j.ajhg.2011.10.015

PMCID:: PMC3234366

Article PDF–549K

Select item 32343683.

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

Eric D. Boyden, A. Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H. Cohn, H. Rosemarie Davidson, Christine Hall, Shiro Ikegawa, Pierre-Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S. Lachman, Geert Mortier, David L. Rimoin, R. Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard Scott, Sheila Unger, Eugenia Ribeiro Valadares, John F. Bateman, Matthew L. Warman, Andrea Superti-Furga, Luisa Bonafé

Am J Hum Genet. 2011 Dec 9; 89(6): 767–772. doi: 10.1016/j.ajhg.2011.10.016