Literature DB >> 12205120

Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome.

A C Offiah, S Mansour, S McDowall, J Tolmie, P Sim, C M Hall.   

Abstract

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Mesh：

Year:  2002        PMID： 12205120      PMCID： PMC1735222          DOI： 10.1136/jmg.39.9.e50

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Authors:  Katherine L Hill-Harfe; Lee Kaplan; Heather J Stalker; Roberto T Zori; Ramona Pop; Gerd Scherer; Margaret R Wallace
Journal:  Am J Hum Genet       Date:  2005-04       Impact factor: 11.025

2.  Mild Campomelic Dysplasia: Report on a Case and Review.

Authors:  S Corbani; E Chouery; B Eid; N Jalkh; J Abou Ghoch; A Mégarbané
Journal:  Mol Syndromol       Date:  2011-01-10

3.  Mutations in the human TBX4 gene cause small patella syndrome.

Authors:  Ernie M H F Bongers; Pascal H G Duijf; Sylvia E M van Beersum; Jeroen Schoots; Albert Van Kampen; Andreas Burckhardt; Ben C J Hamel; Frantisek Losan; Lies H Hoefsloot; Helger G Yntema; Nine V A M Knoers; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2004-04-21       Impact factor: 11.025

4.  A case of campomelic dysplasia without sex reversal.

Authors:  Hyoung-Young Kim; Chong Hyun Yoon; Gu-Hwan Kim; Han-Wook Yoo; Byong Sop Lee; Ki Soo Kim; Ellen Ai-Rhan Kim
Journal:  J Korean Med Sci       Date:  2010-12-22       Impact factor: 2.153

5.  Spine malformation complex in 3 diverse syndromic entities: Case reports.

Authors:  Ali Al Kaissi; Andreas van Egmond-Fröhlich; Sergey Ryabykh; Polina Ochirov; Vladimir Kenis; Jochen G Hofstaetter; Franz Grill; Rudolf Ganger; Susanne Gerit Kircher
Journal:  Medicine (Baltimore)       Date:  2016-12       Impact factor: 1.889

6.  Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders.

Authors:  Stuti Prakash; Andrea Mattiotti; Marc Sylva; Barbara J M Mulder; Alex V Postma; Maurice J B van den Hoff
Journal:  Mol Genet Genomic Med       Date:  2019-02-05       Impact factor: 2.183
  6 in total

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