Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.

Noor Ul AinMarta BaroncelliAlice CostantiniTayyaba IshaqFulya TaylanOla NilssonOuti MäkitieSadaf Naz

Published in: Journal of medical genetics (2020)

This study describes a novel severe skeletal dysplasia associated with a biallelic, variant in GNPNAT1. Our data suggest that GNPNAT1 is important for growth plate chondrogenesis.

Keyphrases

electronic health record
intellectual disability
autism spectrum disorder
machine learning
deep learning
data analysis
drug induced