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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Meazza, Cristina, Lausch, Ekkehard, Pagani, Sara, Bozzola, Elena, Calcaterra, Valeria, Superti-Furga, Andrea, Silengo, Margherita, Bozzola, Mauro
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3608257/
https://ncbi.nlm.nih.gov/pubmed/23517720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-39-21
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky