Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.
第一作者:
M D,Speevak
第一单位:
Genetics Department, Credit Valley Hospital, Mississauga, Ontario, Canada. mspeevak@cvh.on.ca
作者:
医学主题词
儿童(Child);儿童, 学龄前(Child, Preschool);染色体缺失(Chromosome Deletion);染色体, 人, 1对(Chromosomes, Human, Pair 1);发育障碍(Developmental Disabilities);面部(Face);女(雌)性(Female);遗传关联研究(Genetic Association Studies);人类(Humans);男(雄)性(Male);表型(Phenotype);发作(Seizures)
DOI
10.1002/ajmg.a.35828
PMID
23495039
发布时间
2020-09-30
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