Retinal involvement in two unrelated patients with Myhre syndrome-Reference-Cited by-同舟云学术

Retinal involvement in two unrelated patients with Myhre syndrome

Published:2012-10 Issue:10 Volume:55 Page:541-547
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Al Ageeli Essam,Mignot Cyril,Afenjar Alexandra,Whalen Sandra,Dorison Nathalie,Mayer Michèle,Esteva Blandine,Dubern Béatrice,Momtchilova Marta,Le Gargasson Jean-François,Bursztyn Joseph,Héron Delphine

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

1. A new growth deficiency syndrome;Myhre;Clin. Genet.,1981

2. Myhre syndrome: new reports, review, and differential diagnosis;Burglen;J. Med. Genet.,2003

3. The Myhre syndrome: report of two cases;Garcia-Cruz;Clin. Genet.,1993

4. Clinical features and respiratory complications in Myhre syndrome;McGowan;Eur. J. Med. Genet.,2011

5. A new syndrome of short stature, joint limitation and muscle hypertrophy;Soljak;Clin. Genet.,1983

Cited by 12 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. 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

2. A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4;Molecular Genetics & Genomic Medicine;2022-11-14

3. Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report;Frontiers in Pediatrics;2020-02-27

4. The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity;Clinica Chimica Acta;2020-01

5. Myhre syndrome: a report of six Chinese patients and literature review;Clinical Dysmorphology;2019-07