3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy

3-M syndrome is a rare autosomal recessive disorder caused by mutations in the CUL7, OBSL1 and CCDC8 genes. It is characterised by growth failure, dysmorphic features and skeletal abnormalities. Data in the literature show variable efficacy of GH in the treatment of short stature. We report four Emi...

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Detalles Bibliográficos
Autores principales: Deeb, A, Afandi, O, Attia, S, Fatih, A El
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2015
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418346/
https://www.ncbi.nlm.nih.gov/pubmed/25945256
http://dx.doi.org/10.1530/EDM-15-0012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418346/
https://www.ncbi.nlm.nih.gov/pubmed/25945256
http://dx.doi.org/10.1530/EDM-15-0012

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