关键词: AIFM1 SMD-H cerebral hypomyelination hypomyelinating leukodystrophy skeletal dysplasia spondylometaphyseal dysplasia
Mesh : Apoptosis Inducing Factor / genetics Bone Development / genetics Exons Genetic Diseases, X-Linked / diagnosis diagnostic imaging genetics pathology Genetic Predisposition to Disease Humans Male Mutation / genetics Nervous System Malformations / diagnosis diagnostic imaging genetics pathology Osteochondrodysplasias / diagnosis diagnostic imaging genetics pathology Pedigree
来 源:
DOI:10.1002/ajmg.a.62072
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