RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
第一作者:
Noboru,Uchida
第一单位:
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.;Department of Pediatrics, Saiseikai Utsunomiya Hospital, Utsunomiya, Japan.
作者:
医学主题词
等位基因(Alleles);青少年(Adolescent);突变(Mutation);儿童, 学龄前(Child, Preschool);女(雌)性(Female);表型(Phenotype);系谱(Pedigree);人类(Humans);侏儒症(Dwarfism);毛发(Hair);男(雄)性(Male);日本(Japan);儿童(Child);Hirschsprung病(Hirschsprung Disease);骨软骨发育不良(Osteochondrodysplasias);基因型(Genotype)
DOI
10.1002/ajmg.a.63562
PMID
38337186
发布时间
2024-08-12
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