Literature DB >> 11822703

An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.

L I Al-Gazali1, M Bakir, O A Hamud, S Gerami.   

Abstract

We report a consanguineous Arab family with four children affected with bifid nose associated with renal agenesis and variable degree of anorectal malformations. We suggest that the combination of abnormalities in these children represent a previously undescribed autosomal recessive syndrome.

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Year:  2002        PMID： 11822703     DOI： 10.1097/00019605-200201000-00007

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  6 in total

1.  Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Authors:  Tyler F Beck; Danielle Veenma; Oleg A Shchelochkov; Zhiyin Yu; Bum Jun Kim; Hitisha P Zaveri; Yolande van Bever; Sunju Choi; Hannie Douben; Terry K Bertin; Pragna I Patel; Brendan Lee; Dick Tibboel; Annelies de Klein; David W Stockton; Monica J Justice; Daryl A Scott
Journal:  Hum Mol Genet       Date:  2012-12-05       Impact factor: 6.150

2.  Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Authors:  Jared Nathanson; Daniel T Swarr; Amihood Singer; Mochi Liu; Amy Chinn; Wendy Jones; Jane Hurst; Nahla Khalek; Elaine Zackai; Anne Slavotinek
Journal:  Am J Med Genet A       Date:  2013-02-08       Impact factor: 2.802

3.  FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Authors:  Anas M Alazami; Ranad Shaheen; Fatema Alzahrani; Katie Snape; Anand Saggar; Bernd Brinkmann; Prashant Bavi; Lihadh I Al-Gazali; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2009-09       Impact factor: 11.025

Review 4.  Associations of anorectal malformations and related syndromes.

Authors:  Sam W Moore
Journal:  Pediatr Surg Int       Date:  2013-04-09       Impact factor: 1.827

5.  The fetal magnetic resonance imaging experience in a large community medical center.

Authors:  Peter M Ghobrial; Rebecca A Levy; Stephen C O'Connor
Journal:  J Clin Imaging Sci       Date:  2011-05-31

6.  Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

Authors:  Tyler F Beck; Oleg A Shchelochkov; Zhiyin Yu; Bum Jun Kim; Andrés Hernández-García; Hitisha P Zaveri; Colin Bishop; Paul A Overbeek; David W Stockton; Monica J Justice; Daryl A Scott
Journal:  PLoS One       Date:  2013-03-11       Impact factor: 3.240
  6 in total

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