Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
第一作者:
X P,Zhou
第一单位:
Clinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA,
作者:
医学主题词
动静脉畸形(Arteriovenous Malformations);碱基序列(Base Sequence);DNA引物(DNA Primers);生殖细胞系突变(Germ-Line Mutation);人类(Humans);肥大(Hypertrophy);肢畸形, 先天性(Limb Deformities, Congenital);脂肪瘤样病(Lipomatosis);PTEN磷酸水解酶(PTEN Phosphohydrolase);磷酸单酯水解酶类(Phosphoric Monoester Hydrolases);Proteus综合征(Proteus Syndrome);逆转录聚合酶链反应(Reverse Transcriptase Polymerase Chain Reaction);肿瘤抑制蛋白质类(Tumor Suppressor Proteins)
DOI
10.1093/hmg/9.5.765
PMID
10749983
发布时间
2019-05-13
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