换一批Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
第一作者：
Isabelle,Thiffault
第一单位：
Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA. ithiffault@cmh.edu.;Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA. ithiffault@cmh.edu.;University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA. ithiffault@cmh.edu.
作者：
医学主题词
畸形, 多发性(Abnormalities, Multiple);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);发育障碍(Developmental Disabilities);癫痫, 部分性(Epilepsies, Partial);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);男(雄)性(Male);肌张力过低(Muscle Hypotonia);突变(Mutation);磷酸转移酶类(Phosphotransferases)
DOI
10.1186/s12881-017-0481-9
PMID
29096607
发布时间
2021-10-08
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