Literature DB >> 11568925

Case of Myhre syndrome with autism and peculiar skin histological findings.

L Titomanlio1, M G Marzano, E Rossi, M D'Armiento, D De Brasi, G R Vega, M V Andreucci, A V Orsini, L Santoro, G Sebastio.   

Abstract

Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of Myhre syndrome, associated with autism and peculiar skin histological findings. Copyright 2001 Wiley-Liss, Inc.

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Year:  2001        PMID： 11568925     DOI： 10.1002/ajmg.1517

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 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.  Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism.

Authors:  Jacobine E Buizer-Voskamp; Lude Franke; Wouter G Staal; Emma van Daalen; Chantal Kemner; Roel A Ophoff; Jacob As Vorstman; Herman van Engeland; Cisca Wijmenga
Journal:  Eur J Hum Genet       Date:  2009-11-25       Impact factor: 4.246

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.  SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Authors:  Pasquale Piccolo; Pratibha Mithbaokar; Valeria Sabatino; John Tolmie; Daniela Melis; Maria Cristina Schiaffino; Mirella Filocamo; Generoso Andria; Nicola Brunetti-Pierri
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

5.  A pilot clinical trial with losartan in Myhre syndrome.

Authors:  Gerarda Cappuccio; Martina Caiazza; Alessandro Roca; Daniela Melis; Antonella Iuliano; Gabor Matyas; Marta Rubino; Giuseppe Limongelli; Nicola Brunetti-Pierri
Journal:  Am J Med Genet A       Date:  2020-12-24       Impact factor: 2.802

6.  First documented case of Myhre syndrome in Romania: A case report.

Authors:  Andreea Cătană; Ruxandra Simonescu-Colan; Zina Cuzmici-Barabaș; Diana Militaru; Irina Iordănescu; Mariela Sanda Militaru
Journal:  Exp Ther Med       Date:  2022-03-10       Impact factor: 2.447

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

Authors:  Viviana Caputo; Luciano Cianetti; Marcello Niceta; Claudio Carta; Andrea Ciolfi; Gianfranco Bocchinfuso; Eugenio Carrani; Maria Lisa Dentici; Elisa Biamino; Elga Belligni; Livia Garavelli; Loredana Boccone; Daniela Melis; Generoso Andria; Bruce D Gelb; Lorenzo Stella; Margherita Silengo; Bruno Dallapiccola; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2012-01-13       Impact factor: 11.025

8.  A case of Myhre syndrome mimicking juvenile scleroderma.

Authors:  Barbara Jensen; Rebecca James; Ying Hong; Ebun Omoyinmi; Clarissa Pilkington; Neil J Sebire; Kevin J Howell; Paul A Brogan; Despina Eleftheriou
Journal:  Pediatr Rheumatol Online J       Date:  2020-09-11       Impact factor: 3.413
  8 in total

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