Literature DB >> 12868475

Myhre syndrome: first female case.

N O Dávalos1, J E García-Ortiz, D García-Cruz, J Sánchez-Corona.   

Abstract

A 15 year old girl with the Myhre type growth-mental retardation syndrome is described. This is the first female case reported in the literature. The inheritance pattern of this condition is not clear.

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Year:  2003        PMID： 12868475     DOI： 10.1097/00019605-200304000-00009

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


  2 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.  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
  2 in total

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