Identifying causative genes to microcephalic osteodysplastic dwarfism with moyamoya disease
收藏NIAID Data Ecosystem2026-05-02 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP538749
下载链接
链接失效反馈官方服务：
资源简介：
A recurrent homozygous missense variant in the gene that encodes the translocase of outer mitochondrial membrane 7 (TOMM7) in patients with microcephaly, short stature, facial dysmorphia, atrophic macular scarring, and moyamoya disease was identified through whole exam sequencing.
创建时间：
2024-11-15
