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3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient
3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome. Here we describe the growth and evolution of dismorphic features of an Italian boy wi...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608257/ https://www.ncbi.nlm.nih.gov/pubmed/23517720 http://dx.doi.org/10.1186/1824-7288-39-21 |