换一批
换一批Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.
第一作者：
Andrea,Guerin
第一单位：
The Hospital for Sick Children, Department of Pediatrics, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada; Kingston General Hospital, Department of Pediatrics, Division of Medical Genetics, Kingston, Ontario, Canada.
作者：
主题词
眼前半段(Anterior Eye Segment);儿童(Child);眼畸形(Eye Abnormalities);眼疾病, 遗传性(Eye Diseases, Hereditary);女(雌)性(Female);青光眼(Glaucoma);人类(Humans);突变(Mutation);努南综合征(Noonan Syndrome);表型(Phenotype);蛋白质酪氨酸磷酸酶, 非受体11型(Protein Tyrosine Phosphatase, Non-Receptor Type 11)
DOI
10.1002/ajmg.a.36841
PMID
25425531
发布时间
2020-09-30
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