官方服务：
资源简介：
To provide some perspective in osteogenesis imperfecta
应用场景：
创建时间：
2023-02-21
相关数据集
Alleles in Genes Related to Autosomal Recessive Genetic Skeletal Disorders: Whole-Exome Sequencing Data from the Sri Lankan Population
This dataset comprises whole-exome sequencing (WES) data collected from 399 individuals in Sri Lanka who were not suspected of having genetic skeletal disorders. The dataset was used to analyze the al
DataCite Commons2024-11-17 更新30
Multi-Omic analyses reveal aberrant differentiation trajectory with WNT1 Loss-of-Function in type XV osteogenesis imperfecta. Multi-Omic analyses reveal aberrant differentiation trajectory with WNT1 Loss-of-Function in type XV osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a serious genetic bone disorder characterized by congenital low bone mass, deformity and frequent fractures. Type XV OI is a moderate to severe form of skeletal dysplas
NIAID Data Ecosystem20
DataSheet1_Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.zip
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare skeletal dysplasia characterized by severe disproportionate short stature, short hands and feet, normal intelligence, and facial dysmorphism. H
NIAID Data Ecosystem30
Data_Sheet_1_The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.docx
BackgroundPyle disease is a rare autosomal recessive bone dysplasia characterized by the broadening of metaphyses with generalized cortical thinning. Homozygous truncating mutations in secreted frizzl
NIAID Data Ecosystem30
