autosomal造句
31. Nevoid basal cell carcinoma syndrome is a rare autosomal dominant genetic disorder characterized by developmental abnormalities and tumorigenesis.
32. Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris ( IV ) .
33. Genetic counseling. SMA is inherited in an autosomal recessive manner.
34. Objective To evaluate the possibility of migraine in Chinese with the cerebral arteriopathy due to autosomal dominant implicated in subcortical infarcts and leukoencephalopathy.
35. Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin.
36. Neurofibromatosis is one of autosomal - dominant neurogenetic diseases with relatively low incidence.
37. Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment.
38. Herediatery nonpopsis colorectal cancer(HNPCC) is an autosomal dominant inheritance syndrome , its penetrance is as high as 70 - 80% , and occupy about 5-15% of the colorectal cancer.
39. Conclusion: EXT is an autosomal dominant disorder and the penetrance is 97 % in this report.
40. Mutation of CPAP induces a neuro-developmental disorder named MCPH (autosomal recessive primary microcephaly) that causes a great reduction in brain growth in human.
41. Genetic studies have shown that familial hypertrophic cardiomyopathy (FHCM) is an autosomal dominant disorder of heart muscle.
42. It is obviously autosomal dominant inheritance according to the pedigree.
43. An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.
44. Multiple osteochondromas can occur either spontaneously or in an autosomal dominant disorder known as hereditary multiple exostoses .
45. Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
46. As with familial adenomatous polyposis,[Sentence dictionary] the inheritance pattern is autosomal dominant.
47. Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before.
48. Hereditary Non - Polyposis Colorectal Cancer Syndrome ( HNPCC ) is an autosomal dominant hereditary condition.
49. Certain autosomal translocations in the heterozygous state can be fully viable.
50. Most mammals have just two kinds of photopigment in their retinas: one is encoded in the X chromosome and the other in an autosomal (non-sex) chromosome.
51. Multiple carboxylase deficiency ( MCD ) is an autosomal recessive disorder of inherited metabolic diseases.
52. Osteogenesis imperfecta(OMIM 166200)is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue.
53. Conclusion: The genetics of the true pattern in human palmar hypothenar area may belong to autosomal dominant inheritance.
54. Conclusion:LP is an autosomal recessive disease, and the mutation of pathogenic gene of LP is rare in Chinese people.
55. Intracranial aneurysms (ICA) are common extrarenal manifestations of autosomal dominant polycystic kidney disease (ADPKD). Their natural history is not completely understood.
56. Connective tissue nevi are uncommon hamartomas that may be acquired or may manifest an autosomal dominant pattern of inheritance.
57. Dentinogenesis imperfecta (DI) is a kind of mesodermal defect inherited in a simple autosomal dominant mode.
58. Results The inheritance pattern of the ADAAA family was autosomal dominant with complete penetrance.
59. At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.
60. Autosomal recessive polycystic kidney disease (ARPKD) is much rarer than ADPKD and is often lethal. The signs and symptoms of the condition are usually apparent at birth or in early infancy.
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