Literature DB >> 10532174

Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease.

P Aurora1, C E Wallis.   

Abstract

We describe two children with diagnostic features of Jeune syndrome who also had Hirschsprung disease. An association between the two conditions has not previously been described and has implications both for clinical management and for further study.

Entities:  

Mesh：

Year:  1999        PMID： 10532174

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


  4 in total

1.  Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

Authors:  Loïc de Pontual; Norann A Zaghloul; Sophie Thomas; Erica E Davis; David M McGaughey; Hélène Dollfus; Clarisse Baumann; Seneca L Bessling; Candice Babarit; Anna Pelet; Cecilia Gascue; Philip Beales; Arnold Munnich; Stanislas Lyonnet; Heather Etchevers; Tania Attie-Bitach; Jose L Badano; Andrew S McCallion; Nicholas Katsanis; Jeanne Amiel
Journal:  Proc Natl Acad Sci U S A       Date:  2009-07-31       Impact factor: 11.205

Review 2.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

Review 3.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

4.  Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Authors:  Thuy-Linh Le; Yunia Sribudiani; Xiaomin Dong; Céline Huber; Chelsea Kois; Geneviève Baujat; Christopher T Gordon; Valerie Mayne; Louise Galmiche; Valérie Serre; Nicolas Goudin; Mohammed Zarhrate; Christine Bole-Feysot; Cécile Masson; Patrick Nitschké; Frans W Verheijen; Lynn Pais; Anna Pelet; Simon Sadedin; John A Pugh; Natasha Shur; Susan M White; Salima El Chehadeh; John Christodoulou; Valérie Cormier-Daire; R M W Hofstra; Stanislas Lyonnet; Tiong Yang Tan; Tania Attié-Bitach; Wilhelmina S Kerstjens-Frederikse; Jeanne Amiel; Sophie Thomas
Journal:  Am J Hum Genet       Date:  2020-05-14       Impact factor: 11.025
  4 in total

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