The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.

Gema AricetaSigne Sparre Beck-NielsenAnnemieke M BootMaria Luisa BrandiKarine BriotCarmen de Lucas CollantesFrancesco EmmaSandro GianniniDieter HaffnerRichard KeenElena LevtchenkoOuti MӓkitieM Zulf MughalOla NilssonDirk SchnabelLiana Tripto-ShkolnikJonathan LiuAngela WilliamsSue WoodM Carola Zillikens

Published in: Orphanet journal of rare diseases (2023)

The data collected within the International XLH Registry, the largest XLH registry to date, provide substantial information to address the paucity of natural history data, starting with demographic, family history, genetic testing, diagnosis, auxology and baseline data on clinical presentation.

Keyphrases

electronic health record
big data
gene expression
genome wide
data analysis
dna methylation
deep learning