Christiaan de Bruin Zerrin Orbak Melissa Andrew Vivian Hwa Andrew Dauber
10.1159/000443684
Horm Res Paediatr
2016;85(5):358-62.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26789720/
Autoimmune Diseases / genetics Frameshift Mutation Growth Disorders / genetics Osteochondrodysplasias / genetics Siblings Tartrate-Resistant Acid Phosphatase / deficiency
Autoimmune Diseases / genetics Frameshift Mutation Growth Disorders / genetics Osteochondrodysplasias / genetics Siblings Tartrate-Resistant Acid Phosphatase / deficiency Case Reports Adolescent Autoimmune Diseases / physiopathology Child Female Growth Disorders / physiopathology Humans Male Osteochondrodysplasias / physiopathology Turkey ACP5 protein, human Tartrate-Resistant Acid Phosphatase Spondyloenchondrodysplasia
PMC4891295
26789720
Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency
2016