Literature DB >> 15057124

Second female case of Myhre syndrome.

M G Lopez-Cardona1, D Garcia-Cruz, J E Garcia-Ortiz, N O Davalos, A Feria-Velasco, L X Rodriguez-Rojas, M O Garcia-Cruz, L E Figuera-Villanueva, A Stephens, F Larios-Arceo, J Sanchez-Corona.   

Abstract

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.

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Year:  2004        PMID： 15057124     DOI： 10.1097/00019605-200404000-00007

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


  4 in total

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Journal:  Eur J Hum Genet       Date:  2011-12-14       Impact factor: 4.246

2.  Natural history and life-threatening complications in Myhre syndrome and review of the literature.

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Journal:  Eur J Pediatr       Date:  2016-08-25       Impact factor: 3.183

3.  Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Authors:  Caroline Michot; Carine Le Goff; Clémentine Mahaut; Alexandra Afenjar; Alice S Brooks; Philippe M Campeau; Anne Destree; Maja Di Rocco; Dian Donnai; Raoul Hennekam; Delphine Heron; Sébastien Jacquemont; Peter Kannu; Angela E Lin; Sylvie Manouvrier-Hanu; Sahar Mansour; Sandrine Marlin; Ruth McGowan; Helen Murphy; Annick Raas-Rothschild; Marlène Rio; Marleen Simon; Irene Stolte-Dijkstra; James R Stone; Yves Sznajer; John Tolmie; Renaud Touraine; Jenneke van den Ende; Nathalie Van der Aa; Ton van Essen; Alain Verloes; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

4.  A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

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Journal:  Am J Hum Genet       Date:  2012-01-13       Impact factor: 11.025
  4 in total

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