SAT-283 A Mutation In Ccdc53 Affects Pth1r Trafficking And Causes Disproportionate Short Stature Wit...
SAT-283 A Mutation In Ccdc53 Affects Pth1r Trafficking And Causes Disproportionate Short Stature With Noonan-like Facies
About this item
Full title
Author / Creator
Publisher
Washington, DC: Endocrine Society
Journal title
Language
English
Formats
Publication information
Publisher
Washington, DC: Endocrine Society
Subjects
More information
Scope and Contents
Contents
In many children with short stature, the genetic etiology remains unknown. Short stature due to defects in trafficking of membrane-associated proteins, such as receptors, has not been reported. A mother and two daughters presented with disproportionate short stature and Noonan-like facies. Exome sequencing, confirmed by Sanger sequencing, identifie...
Alternative Titles
Full title
SAT-283 A Mutation In Ccdc53 Affects Pth1r Trafficking And Causes Disproportionate Short Stature With Noonan-like Facies
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6552090
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6552090
Other Identifiers
ISSN
2472-1972
E-ISSN
2472-1972
DOI
10.1210/js.2019-SAT-283
