Baidu
map

A novel homozygous splice site variant in the CLCN7 causes osteopetrosis

Klaab, Z; Tuwaijri, AA; Umair, M; Aldahmash, B; Alfadhel, M

Klaab, Z; Alfadhel, M (通讯作者),King Saud Bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Minist Nat Guard Hlth Affairs MNGHA, Genet & Precis Med Dept CPM, POB 22490,Mail code 1490, Riyadh 11426, Saudi Arabia.;Klaab, Z; Alfadhel, M (通讯作者),King Saud Bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Minist Nat Guard Hlth Affairs MNGHA, Med Genom Res Lab, POB 22490,Mail code 1490, Riyadh 11426, Saudi Arabia.

JOURNAL OF KING SAUD UNIVERSITY SCIENCE, 2023; 35 (1):

Abstract

Objectives: Osteopetrosis is a monogenic disorder represented by disturbed osteoclast resorption or osteoclastogenesis differentiation. Clinical sympt......

Full Text Link


Baidu
map
Baidu
map
Baidu
map