Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review

Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review

Pycnodysostosis, a rare osteopetrosis subtype, is mainly caused by homozygous or compound heterozygous biallelic pathogenic mutation of the cathepsin K (CTSK) gene. The cohort included eight patients (four males and four females) with a mean current age of 13 years (SD ± 3.6) and a mean age at diagn...

Full description

Saved in:
Bibliographic Details
Main Authors: Afaf Alsagheir, Raghad Alhuthil, Ahmad T. Alissa, Faisal Joueidi, Ahmed G. Sayed, Waleed Al-Amoudi, Alanoud S. Alabdulhadi, Bassam Bin-Abbas
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Endocrinology
Subjects:
CTSK gene
osteopetrosis
skeletal deformities
osteomyelitis
bone fracture
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1517840/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2025.1517840/full

Similar Items