Literature DB >> 11310994

A new case of Myhre syndrome.

M L Whiteford1, W B Doig, P A Raine, A S Hollman, J L Tolmie.   

Abstract

Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There have only been five reported cases and we now present a sixth, together with a review of the clinical features of this syndrome.

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Year:  2001        PMID： 11310994     DOI： 10.1097/00019605-200104000-00011

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


  4 in total

1.  17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

Authors:  Sarah Vergult; Andrew Dauber; Barbara Delle Chiaie; Elke Van Oudenhove; Marleen Simon; Ali Rihani; Bart Loeys; Joel Hirschhorn; Jean Pfotenhauer; John A Phillips; Shehla Mohammed; Caroline Ogilvie; John Crolla; Geert Mortier; Björn Menten
Journal:  Eur J Hum Genet       Date:  2011-12-14       Impact factor: 4.246

2.  Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.

Authors:  Semra Gürsoy; Filiz Hazan; Tülay Öztürk; Halil Ateş
Journal:  Mol Syndromol       Date:  2019-12-20

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

Authors:  Livia Garavelli; Ilenia Maini; Federica Baccilieri; Ivan Ivanovski; Marzia Pollazzon; Simonetta Rosato; Lorenzo Iughetti; Sheila Unger; Andrea Superti-Furga; Marco Tartaglia
Journal:  Eur J Pediatr       Date:  2016-08-25       Impact factor: 3.183

4.  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 in total

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