Myhre and LAPS syndromes: clinical and molecular review of 32 patients-Reference-Cited by-同舟云学术

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

Published:2014-01-15 Issue:11 Volume:22 Page:1272-1277
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013288.pdf

Reference28 articles.

1. Myhre SA, Ruvalcaba RH, Graham CB : A new growth deficiency syndrome. Clin Genet 1981; 20: 1–5.

2. Becerra-Solano LE, Diaz-Rodriguez M, Nastasi-Catanese JA et al: The fifth female patient with Myhre syndrome: further delineation. Clin Dysmorphol 2008; 17: 113–117.

3. Burglen L, Heron D, Moerman A et al: Myhre syndrome: new reports, review, and differential diagnosis. J Med Genet 2003; 40: 546–551.

4. Davalos NO, Garcia-Ortiz JE, Garcia-Cruz D, Feria-Velasco A, Sanchez-Corona J : Myhre syndrome: first female case. Clin Dysmorphol 2003; 12: 119–121.

5. Garcia-Cruz D, Figuera LE, Feria-Velazco A et al: The Myhre syndrome: report of two cases. Clin Genet 1993; 44: 203–207.

Cited by 42 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations;European Journal of Human Genetics;2024-07-12

2. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023);American Journal of Medical Genetics Part A;2024-05-23

3. Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature;Journal of Medical Genetics;2023-09-21

4. TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature;Annual Review of Genomics and Human Genetics;2023-08-25

5. A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys);Molecular Syndromology;2023