1-2 of 2
Keywords: NPR2
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and Other Genetic Causes of Short Stature

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Despoina Galetaki, Anqing Zhang, Nicole Rangos, Nadia Merchant, Roopa Kanakatti Shankar, Kimberly Pitner, Niusha Shafaei, Raheem Seaforth, Andrew Dauber
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2025)
https://doi.org/10.1159/000545318
Published Online: 17 March 2025
.... 2025 Introduction: Short stature can lead to physical limitations and socioemotional effects limiting a child and parents’ quality of life (QoL). This study investigates the impact of hypochondroplasia and other genetic causes ( ACAN , NPR2 mutations, and RASopathy) of short stature on QoL...
View article titled, Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and Other Genetic Causes of Short Stature
Open the PDF for Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and Other Genetic Causes of Short Stature in another window
Journal Articles

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Jan M. Wit, Gerdine A. Kamp, Wilma Oostdijk, on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (4): 223–240.
https://doi.org/10.1159/000499915
Published Online: 13 June 2019
... growth disorder warrants adequate further targeted testing. [email protected] Short stature Growth disorders Turner syndrome SHOX NPR2 IHH ACAN Microarray 24 02 2019 25 03 2019 13 6 2019 © 2019 The Author(s) Published by S. Karger AG, Basel 2019 Open Access...
View article titled, Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician
Open the PDF for Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician in another window