Literature DB >> 8357567

The Larsen syndrome. The diagnostic contribution of the analysis of the metacarpophalangeal pattern profile.

L De Smet1, E Legius, G Fabry, J P Fryns.   

Abstract

In this report we illustrate the variable expression and the different modes of inheritance in Larsen syndrome. The important contribution of the metacarpophalangeal profile pattern analysis in the final diagnosis is emphasized.

Mesh：

Year:  1993        PMID： 8357567

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  4 in total

1.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:  Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal:  J Med Genet       Date:  2006-06-26       Impact factor: 6.318

2.  Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome.

Authors:  Yasemin Alanay; Gulen Eda Utine; Ralph S Lachman; Deborah Krakow; Ergul Tuncbilek
Journal:  Pediatr Radiol       Date:  2006-05-20

3.  Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus.

Authors:  M Vujic; K Hallstensson; J Wahlström; A Lundberg; C Langmaack; T Martinson
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

4.  An orthodontic perspective on Larsen syndrome.

Authors:  Madoka Yasunaga; Hiroyuki Ishikawa; Kenichi Yanagita; Sachio Tamaoki
Journal:  BMC Oral Health       Date:  2021-03-10       Impact factor: 2.757
  4 in total

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