Variant of factor IX deficiency in female with 45, X Turner's syndrome.

作者信息

Bithell T C, Pizarro A, MacDiarmid W D

出版信息

Blood. 1970 Aug;36(2):169-79.

PMID:5427452

Abstract

摘要

相似文献

Variant of factor IX deficiency in female with 45, X Turner's syndrome.

Blood. 1970 Aug;36(2):169-79.

Hemophilia B in a phenotypically normal girl with XX (ring) XO mosaicism.

Acta Haematol. 1973;49(2):108-13. doi: 10.1159/000208391.

Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome).

Br J Haematol. 1976 Sep;34(1):129-35. doi: 10.1111/j.1365-2141.1976.tb00181.x.

Delayed diagnosis of congenital factor IX deficiency (Christmas disease) in a girl with Turner's Syndrome.

Clin Lab Haematol. 2006 Oct;28(5):355-6. doi: 10.1111/j.1365-2257.2006.00810.x.

[Association of a case of Turner's syndrome with familial t(Cq-; Gp+)].

Ann Genet. 1970 Mar;13(1):61-6.

Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.

Clin Endocrinol (Oxf). 1994 Jan;40(1):39-45. doi: 10.1111/j.1365-2265.1994.tb02441.x.

Familial multiple coagulation factor deficiencies. II. Combined factor VIII, IX, and XI deficiency and combined factor IX and XI deficiency: two previously uncharacterized familial multiple factor deficiency syndromes.

Semin Thromb Hemost. 1981 Fall;7(2):149-69. doi: 10.1055/s-2007-1005074.

Chromosome studies in 30 children with Turner's syndrome.

Acta Paediatr Scand. 1972 Jan;61(1):17-23. doi: 10.1111/j.1651-2227.1972.tb15898.x.

[Heart and blood vessel abnormalities in Turner's syndrome].

Arch Kinderheilkd. 1968;178(1):86-94.

Christmas disease in a girl.

Am J Dis Child. 1969 May;117(5):585-8. doi: 10.1001/archpedi.1969.02100030587016.

引用本文的文献

Hemophilia B+ or Bm. First case reported in Italy.

Blut. 1973 Apr;26(4):268-79. doi: 10.1007/BF01631791.

Christmas disease in one of a pair of monozygotic twin girls, possibly the effect of lyonization.

J Med Genet. 1972 Dec;9(4):396-400. doi: 10.1136/jmg.9.4.396.

A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes.

Hum Genet. 1986 Feb;72(2):157-9. doi: 10.1007/BF00283936.

Molecular analysis of a female Lesch-Nyhan patient.

J Clin Invest. 1989 Sep;84(3):1024-7. doi: 10.1172/JCI114224.

Alport syndrome, basement membranes and collagen.

Pediatr Nephrol. 1990 Sep;4(5):523-32. doi: 10.1007/BF00869840.

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

Proc Natl Acad Sci U S A. 1991 Jan 1;88(1):39-42. doi: 10.1073/pnas.88.1.39.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验