High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature | Zendy

Lana Stavber | Zendy; Tinka Hovnik | Zendy; Primož Kotnik | Zendy; Luca Lovrečić | Zendy; Jernej Kovač | Zendy; Tine Tesovnik | Zendy; Sara Bertok | Zendy; Klemen Dovč | Zendy; Maruša Debeljak | Zendy; Tadej Battelino | Zendy; Magdalena Avbelj Stefanija | Zendy

AI Assistant Blog Pricing

Open Access

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

Author(s) -

Lana Stavber,

Tinka Hovnik,

Primož Kotnik,

Luca Lovrečić,

Jernej Kovač,

Tine Tesovnik,

Sara Bertok,

Klemen Dovč,

Maruša Debeljak,

Tadej Battelino,

Magdalena Avbelj Stefanija

Publication year - 2020

Publication title -

european journal of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.897

H-Index - 148

eISSN - 1479-683X

pISSN - 0804-4643

DOI - 10.1530/eje-19-0771

Subject(s) - proband , short stature , genetics , exome sequencing , copy number variation , phenotype , biology , idiopathic short stature , cohort , exome , etiology , mutation , gene , medicine , endocrinology , genome , hormone , growth hormone

Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research

Address

John Eccles House
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom

About

About Careers Publisher Partners Contact Us Our institutional solutions Get Organisational Trial or Quote

Learn

FAQs Blog Terms of Use Privacy Policy

Download the Zendy App

Discover

Explore

Home ZAIA Blog