Literature DB >> 15602087

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).

Massimiliano Rossi1, Daniele De Brasi, Christine M Hall, Antonella Battagliese, Daniela Melis, Gianfranco Sebastio, Generoso Andria.   

Abstract

We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.

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Year:  2005        PMID： 15602087     DOI： 10.1097/00019605-200501000-00003

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  2 in total

1.  Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Authors:  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
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

2.  Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Authors:  Eric D Boyden; A Belinda Campos-Xavier; Sebastian Kalamajski; Trevor L Cameron; Philippe Suarez; Goranka Tanackovic; 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
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025
  2 in total

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