Literature DB >> 157583

Siblings with prune belly syndrome and associated pulmonic stenosis, mental retardation, and deafness.

J L Lockhart, H R Reeve, J J Bredael, R P Krueger.   

Abstract

This is the fifth family in the literature with siblings having the prune belly syndrome. It is the first with associated pulmonary stenosis, mental retardation, and hearing deficit. A genetic factor is suggested as the primary cause of the syndrome.

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Mesh：

Year:  1979        PMID： 157583     DOI： 10.1016/0090-4295(79)90145-6

Source DB:  PubMed          Journal:  Urology        ISSN： 0090-4295            Impact factor:   2.649


  4 in total

1.  Genetic basis of prune belly syndrome: screening for HNF1β gene.

Authors:  Candace F Granberg; Steven M Harrison; Daniel Dajusta; Shaohua Zhang; Sachin Hajarnis; Peter Igarashi; Linda A Baker
Journal:  J Urol       Date:  2011-11-23       Impact factor: 7.450

2.  Copy number variations in a population with prune belly syndrome.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven Harrison; Catherine Chen; Michelle K Arevalo; Daniel Wong; Emma Sanchez; Gwen Grimsby; Kathleen Wilson; Linda A Baker
Journal:  Am J Med Genet A       Date:  2018-10-04       Impact factor: 2.802

3.  Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven M Harrison; Angelena B Edwards; Luke T Smith; Erin S Choi; Michelle K Arevalo; Catherine Chen; Shaohua Zhang; Adam J Kern; Angela E Scheuerle; Emma J Sanchez; Chao Xing; Linda A Baker
Journal:  BMC Med Genet       Date:  2020-02-21       Impact factor: 2.103

4.  Prune belly syndrome: current perspectives.

Authors:  Angela M Arlen; Cayce Nawaf; Andrew J Kirsch
Journal:  Pediatric Health Med Ther       Date:  2019-08-06
  4 in total

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