Literature DB >> 7726219

Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?

F R Vargas1, R L Pontes, J C Llerena Júnior, J C de Almeida.   

Abstract

We report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed.

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Mesh：

Year:  1995        PMID： 7726219     DOI： 10.1002/ajmg.1320550303

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Mirror foot: treatment of three cases and review of the literature.

Authors:  Hodaka Fukazawa; Hidehiko Kawabata; Yoshito Matsui
Journal:  J Child Orthop       Date:  2009-07-07       Impact factor: 1.548

2.  Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.

Authors:  R M Clark; P C Marker; E Roessler; A Dutra; J C Schimenti; M Muenke; D M Kingsley
Journal:  Genetics       Date:  2001-10       Impact factor: 4.562

3.  ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.

Authors:  Phatchara Norbnop; Chalurmpon Srichomthong; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  J Hum Genet       Date:  2014-06-26       Impact factor: 3.172

Review 4.  Deformity Reconstruction Surgery for Tibial Hemimelia.

Authors:  David Y Chong; Dror Paley
Journal:  Children (Basel)       Date:  2021-05-31
  4 in total

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