Literature DB >> 1773538

Poland-Moebius syndrome in a boy and Poland syndrome in his mother.

A Rojas-Martínez1, D García-Cruz, A Rodríguez García, J Sánchez-Corona, F Rivas.   

Abstract

A 4 4/12-year-old boy with the Poland-Moebius syndrome, whose mother had the POland syndrome, is presented. This is the first report of the occurrence of both syndromes in the same family, suggesting that they are expressions of the same autosomal dominant gene.

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Year:  1991        PMID: 1773538     DOI: 10.1111/j.1399-0004.1991.tb03081.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

Review 1.  Presentation and Treatment of Poland Anomaly.

Authors:  Joseph A Buckwalter V; Apurva S Shah
Journal:  Hand (N Y)       Date:  2016-10-10

2.  An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Authors:  Ronak M Patel; David Liu; Claudia Gonzaga-Jauregui; Shalini Jhangiani; James T Lu; V Reid Sutton; Susan D Fernbach; Mahshid Azamian; Lisa White; Jane C Edmond; Evelyn A Paysse; John W Belmont; Donna Muzny; James R Lupski; Richard A Gibbs; Richard Alan Lewis; Brendan H Lee; Seema R Lalani; Philippe M Campeau
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-03
  2 in total

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