Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
先天性小眼球是一种先天发异常性眼科疾病,遗方式有常染色体显性遗、常染色体隐性遗X锁隐性遗。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
先天性小眼球是一种先天发异常性眼科疾病,遗方式有常染色体显性遗、常染色体隐性遗X锁隐性遗。
Dentinogenesis imperfecta (DI) is a kind of mesodermal defect inherited in a simple autosomal dominant mode.
摘要牙本质形成不良是一种体染色体显性遗的中胚层缺陷。
Conclusion: The genetics of the true pattern in human palmar hypothenar area may belong to autosomal dominant inheritance.
结论:手掌小鱼际区真实花纹可能属于常染色体显性遗。
Conclusion: Homocystinuria is a rare autosomal-recessive disorder with multiple systemic complications.Progressive myopia and ectopia lentis are common presenting signs in such patients.
结论:高胱胺酸尿症为一少见之体染色体隐性遗疾病,可导致多样全身并发症,其中最常以渐进性近视及水晶体异位呈现。
Oculocutaneous albinism(OCA) is a group of autosomal recessive disorders of melanin synthesis,which is characterized by congenital hypopigmentation of skin,hair and eyes.
眼皮肤白化病是由于黑色素合成相关基因突变导致眼、皮肤、毛发黑色素沉着减少或缺乏引起的一类常染色体隐形遗疾病的总称。
Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
摘要吉特曼症候群是一种少见的遗性肾小管疾病,于1966年由吉特曼等人提出,其遗方式大多属于自体隐性遗。
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