换一批Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations.
第一作者：
Barbara,Lombardo
作者：
医学主题词
畸形, 多发性(Abnormalities, Multiple);成年人(Adult);染色体, 人, 20对(Chromosomes, Human, Pair 20);比较基因组杂交(Comparative Genomic Hybridization);DNA修复酶类(DNA Repair Enzymes);胚胎发育(Embryonic Development);女(雌)性(Female);人类(Humans);水解酶类(Hydrolases);肾(Kidney);男(雄)性(Male);小头畸形(Microcephaly);胰腺(Pancreas);系谱(Pedigree);表型(Phenotype);多指(趾)畸形(Polydactyly);精神运动性障碍(Psychomotor Disorders);序列缺失(Sequence Deletion)
DOI
10.1159/000499886
PMID
31055587
发布时间
2019-08-05
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