A rare case of skeletal dysplasia: biallelic variant in ACAN gene.

Gülçin Arslan Filiz Hazan Gülin Tabanlı Tarık Kırkgöz Behzat Ozkan

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)

SEMD-ACAN is a rare genetic condition that affects bone growth and development and can cause physical and developmental abnormalities. This article highlights the importance of considering genetic testing in characteristic symptoms associated with SEMD-ACAN, such as severe growth retardation and skeletal abnormalities.

Keyphrases

rare case
genome wide
copy number
physical activity
early onset
intellectual disability
bone mineral density
gene expression
dna methylation
depressive symptoms
postmenopausal women
genome wide identification
bone loss
bone regeneration