Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short statu...
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
About this item
Full title
Author / Creator
Hauer, Nadine N. , Sticht, Heinrich , Boppudi, Sangamitra , Büttner, Christian , Kraus, Cornelia , Trautmann, Udo , Zenker, Martin , Zweier, Christiane , Wiesener, Antje , Jamra, Rami Abou , Wieczorek, Dagmar , Kelkel, Jaqueline , Jung, Anna-Maria , Uebe, Steffen , Ekici, Arif. B , Rohrer, Tilman , Reis, André , Dörr, Helmuth-Günther and Thiel, Christian T.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the
ACAN
gene coding for the proteoglycan aggrecan, a main component of the cartilage mat...
Alternative Titles
Full title
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
Authors, Artists and Contributors
Author / Creator
Sticht, Heinrich
Boppudi, Sangamitra
Büttner, Christian
Kraus, Cornelia
Trautmann, Udo
Zenker, Martin
Zweier, Christiane
Wiesener, Antje
Jamra, Rami Abou
Wieczorek, Dagmar
Kelkel, Jaqueline
Jung, Anna-Maria
Uebe, Steffen
Ekici, Arif. B
Rohrer, Tilman
Reis, André
Dörr, Helmuth-Günther
Thiel, Christian T.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5610314
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5610314
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-12465-6
