Novel mutation in MASP1 gene in a new family with 3MC syndrome.-论文-万方医学网

作者： Muserref,Basdemirci ^[1] ; Askin,Sen ^[2] ; Serdar,Ceylaner ^[3]

作者单位： Department of Medical Genetics, Dr Ali Kemal Belviranli Maternity and Pediatric Hospital, Konya. ^[1] Department of Medical Genetics, Firat University School of Medicine, Elazig. ^[2] Department of Medical Genetics, Intergen Genetic Center, Ankara, Turkey. ^[3]

主题词腹肌(Abdominal Muscles);畸形, 多发性(Abnormalities, Multiple);成年人(Adult);眼睑下垂(Blepharoptosis);儿童(Child);儿童, 学龄前(Child, Preschool);颅面骨畸形(Craniofacial Abnormalities);颅缝早闭(Craniosynostoses);隐睾(Cryptorchidism);发育障碍(Developmental Disabilities);眼畸形(Eye Abnormalities);家庭(Family);女(雌)性(Female);心脏缺损, 先天性(Heart Defects, Congenital);髋脱位, 先天性(Hip Dislocation, Congenital);人类(Humans);婴儿(Infant);甘露糖-结合蛋白-相关丝氨酸蛋白酶类(Mannose-Binding Protein-Associated Serine Proteases);系谱(Pedigree);斜视(Strabismus);综合征(Syndrome);土耳其(Turkey)

DOI 10.1097/MCD.0000000000000256

PMID 30601195

发布时间 2019-06-14

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Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Clinical dysmorphology

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Clinical dysmorphology

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Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Clinical dysmorphology

相似文献

Clinical dysmorphology

相关期刊

检索历史清除