Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old

OBJECTIVES: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Its predominant manifestations include exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive and susceptibility to short stature. Average bi...

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Vydáno v:BMJ Open
Hlavní autoři: Cipolli, Marco, Tridello, Gloria, Micheletto, Alessio, Perobelli, Sandra, Pintani, Emily, Cesaro, Simone, Maserati, Emanuela, Nicolis, Elena, Danesino, Cesare
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2019
Témata:
Genetics and Genomics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6340480/
https://ncbi.nlm.nih.gov/pubmed/30782681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2018-022617
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