Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant
Main Authors: | Wen-Hong Cao, Wen-Bin Wei, Gang Yu, Li Li, Qian Wu |
---|---|
Format: | Article |
Language: | English |
Published: |
Wolters Kluwer
2018-01-01
|
Series: | Chinese Medical Journal |
Online Access: | http://www.cmj.org/article.asp?issn=0366-6999;year=2018;volume=131;issue=3;spage=354;epage=356;aulast=Cao |
Similar Items
-
A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
by: Xia Wang, et al.
Published: (2023-04-01) -
Osteopetrosis in twin infants mimicking leukemia
by: Mili Jain, et al. -
Novel Mutation in T-Cell Immune Regulator 1: A Case of Adult-Onset Autosomal Recessive Osteopetrosis
by: Esma Gülsun Arslan Cellat, et al.
Published: (2022-12-01) -
Osteopetrosis
by: Savarirayan Ravi, et al.
Published: (2009-02-01) -
Osteopetrosis
by: Theresia Santi, et al.
Published: (2016-12-01)