换一批
换一批Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
作者：
主题词
ATP结合匣式转运子(ATP-Binding Cassette Transporters);畸形, 多发性(Abnormalities, Multiple);肢端肥大症(Acromegaly);青少年(Adolescent);心脏扩大(Cardiomegaly);DNA突变分析(DNA Mutational Analysis);面容(Facies);女(雌)性(Female);遗传关联研究(Genetic Association Studies);遗传性疾病, X连锁(Genetic Diseases, X-Linked);人类(Humans);多毛(Hypertrichosis);肢畸形, 先天性(Limb Deformities, Congenital);分子诊断技术(Molecular Diagnostic Techniques);突变, 误义(Mutation, Missense);骨软骨发育不良(Osteochondrodysplasias);表型(Phenotype);钾通道, 内向整流(Potassium Channels, Inwardly Rectifying);受体, 药物(Receptors, Drug)
DOI
10.1002/ajmg.a.35735
PMID
23307537
发布时间
2022-03-31
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