autosomal造句
61. BACKGROUND AND STUDY AIMS: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectasia formation that can lead to small-bowel bleeding.
62. Two main modes of inheritance exist: X-linked and autosomal dominant.
63. FHCM is a heterozygote autosomal dominant disease, and the incidence rate in male is obvious higher than that in female.
64. It is a common occurrence in dogs and is thought to be a sex-limited autosomal recessive trait.
65. Acid maltase deficiency (AMD) is a form of glycogen storage disease, which is an inherited autosomal recessive disease and rarely found in adults.
66. The main inherited mode is autosomal dominant trait with high penetrance, rare autosomal recessive.
67. Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
68. Multiple osteochondromas can occur either spontaneously an autosomal dominant disorder known as hereditary multiple exostoses.
69. Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
70. Hepatolenticular degeneration ( HLD ) is an autosomal reoessively inherited disease caused by copper metabolic dysfunction.
71. Objective To observe the clinical effect of laparoscopic renal cyst decortication (LRCD)for patients with autosomal dominant polycystic kidney disease (ADPKD).
72. BACKGROUND: Hypertrophic cardiomyopathy is an autosomal dominant disease of myocardium characterized by ventricular hypertrophy and myofibrillar disarrays .
73. Oculocutaneous albinism( OCA ) is a group of autosomal recessive disorders of melanin synthesis, which is characterized by congenital hypopigmentation of skin, hair and eyes.
74. Conclusion FC has obvious heterogeneity, and its mode of inheritance is autosomal dominant inheritance with reduced penetrance.
75. Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.
76. Familial Adenomatous Polyposis Syndrome ( FAP ) is an autosomal dominant hereditary condition.
77. We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis.
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