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Dyskeratosis congenita.

作者信息

Davidson H R, Connor J M

机构信息

Duncan Guthrie Institute of Medical Genetics, Glasgow.

出版信息

J Med Genet. 1988 Dec;25(12):843-6. doi: 10.1136/jmg.25.12.843.

DOI:10.1136/jmg.25.12.843

PMID:3236366

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051614/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/98dd/1051614/b6d74310ff19/jmedgene00074-0051-a.jpg

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Dyskeratosis congenita.

J Med Genet. 1988 Dec;25(12):843-6. doi: 10.1136/jmg.25.12.843.

Oral-dental findings in dyskeratosis congenita.

J Oral Pathol Med. 1992 Jul;21(6):280-4. doi: 10.1111/j.1600-0714.1992.tb01011.x.

Dyskeratosis congenita.

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Dyskeratosis congenita: report of a case and review of the literature.

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Haemopoietic progenitor cells in dyskeratosis congenita.

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What syndrome is this characteristic of? Dyskeratosis congenita.

Pediatr Dermatol. 1991 Mar;8(1):81-3. doi: 10.1111/j.1525-1470.1991.tb00847.x.

Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease.

Arch Dermatol. 1985 Nov;121(11):1424-8.

Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.

Br J Dermatol. 1992 Sep;127(3):278-80. doi: 10.1111/j.1365-2133.1992.tb00128.x.

Dyskeratosis congenita: presentation of cutaneous triad in a sporadic case.

BMJ Case Rep. 2018 Nov 28;11(1):e226736. doi: 10.1136/bcr-2018-226736.

[Congenital dyskeratosis. Therapeutic trials].

Ann Dermatol Venereol. 1983;110(2):145-8.

引用本文的文献

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

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Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review.

Ann Otol Rhinol Laryngol. 2022 Sep;131(9):1036-1042. doi: 10.1177/00034894211047470. Epub 2021 Oct 15.

Zinsser-Cole-Engman Syndrome: A Rare Case Report.

J Clin Diagn Res. 2016 Jun;10(6):ZD07-9. doi: 10.7860/JCDR/2016/18744.7964. Epub 2016 Jun 1.

Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation.

Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):228-32. doi: 10.1007/s12288-015-0511-8. Epub 2015 Feb 7.

Male fertility and skin diseases.

Rev Endocr Metab Disord. 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x.

Oral and dental findings of dyskeratosis congenita.

Case Rep Dent. 2014;2014:454128. doi: 10.1155/2014/454128. Epub 2014 Dec 24.

Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.

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Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Ophthalmology. 2010 Mar;117(3):615-22. doi: 10.1016/j.ophtha.2009.08.023. Epub 2009 Dec 22.

Dyskeratosis congenita, stem cells and telomeres.

Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7.

A boy with breathlessness, digital clubbing and central cyanosis.

Eur J Pediatr. 2004 Feb;163(2):129-30. doi: 10.1007/s00431-003-1368-7. Epub 2003 Dec 3.

本文引用的文献

Dyskeratosis congenita: an autosomal dominant disorder.

J Am Acad Dermatol. 1982 Jun;6(6):1034-9. doi: 10.1016/s0190-9622(82)80100-x.

Dyskeratosis congenita: survival, sister-chromatid exchange and repair following treatments with crosslinking agents.

Mutat Res. 1982 Mar;103(3-6):327-32. doi: 10.1016/0165-7992(82)90062-8.

Progressive immune failure in dyskeratosis congenita. Report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed.

Arch Intern Med. 1984 Feb;144(2):397-9.

Dyskeratosis congenita: two examples of this multisystem disorder.

Pediatrics. 1983 Apr;71(4):603-9.

Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts.

Carcinogenesis. 1983;4(7):795-9. doi: 10.1093/carcin/4.7.795.

Dyskeratosis congenita: radiologic features.

Pediatr Radiol. 1982;12(1):31-6. doi: 10.1007/BF01221708.

Congenital dyskeratosis. Zinsser-Engman-Cole syndrome with thymic dysplasia and aplastic anemia.

Am J Dis Child. 1972 Nov;124(5):701-4. doi: 10.1001/archpedi.1972.02110170079012.

Dyskeratosis congenita with hypoplastic anemia: a stem cell defect.

Am J Hematol. 1985 Sep;20(1):85-7. doi: 10.1002/ajh.2830200112.

Dyskeratosis congenita with pancytopenia.

Clin Exp Dermatol. 1985 Jan;10(1):73-8. doi: 10.1111/j.1365-2230.1985.tb02555.x.

Avascular necrosis of bone in dyskeratosis congenita.

Am J Med. 1986 Mar;80(3):511-3. doi: 10.1016/0002-9343(86)90730-8.

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相似文献

Dyskeratosis congenita.

J Med Genet. 1988 Dec;25(12):843-6. doi: 10.1136/jmg.25.12.843.

Oral-dental findings in dyskeratosis congenita.

J Oral Pathol Med. 1992 Jul;21(6):280-4. doi: 10.1111/j.1600-0714.1992.tb01011.x.

Dyskeratosis congenita.

Dermatol Clin. 1995 Jan;13(1):33-9.

Dyskeratosis congenita: report of a case and review of the literature.

Oral Surg Oral Med Oral Pathol. 1988 May;65(5):586-91. doi: 10.1016/0030-4220(88)90142-9.

Haemopoietic progenitor cells in dyskeratosis congenita.

Br J Haematol. 1984 Mar;56(3):513-5. doi: 10.1111/j.1365-2141.1984.tb03981.x.

What syndrome is this characteristic of? Dyskeratosis congenita.

Pediatr Dermatol. 1991 Mar;8(1):81-3. doi: 10.1111/j.1525-1470.1991.tb00847.x.

Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease.

Arch Dermatol. 1985 Nov;121(11):1424-8.

Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.

Br J Dermatol. 1992 Sep;127(3):278-80. doi: 10.1111/j.1365-2133.1992.tb00128.x.

Dyskeratosis congenita: presentation of cutaneous triad in a sporadic case.

BMJ Case Rep. 2018 Nov 28;11(1):e226736. doi: 10.1136/bcr-2018-226736.

[Congenital dyskeratosis. Therapeutic trials].

Ann Dermatol Venereol. 1983;110(2):145-8.

引用本文的文献

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Genes (Basel). 2022 Mar 11;13(3):496. doi: 10.3390/genes13030496.

Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review.

Ann Otol Rhinol Laryngol. 2022 Sep;131(9):1036-1042. doi: 10.1177/00034894211047470. Epub 2021 Oct 15.

Zinsser-Cole-Engman Syndrome: A Rare Case Report.

J Clin Diagn Res. 2016 Jun;10(6):ZD07-9. doi: 10.7860/JCDR/2016/18744.7964. Epub 2016 Jun 1.

Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation.

Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):228-32. doi: 10.1007/s12288-015-0511-8. Epub 2015 Feb 7.

Male fertility and skin diseases.

Rev Endocr Metab Disord. 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x.

Oral and dental findings of dyskeratosis congenita.

Case Rep Dent. 2014;2014:454128. doi: 10.1155/2014/454128. Epub 2014 Dec 24.

Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.

Int Ophthalmol. 2014 Aug;34(4):923-6. doi: 10.1007/s10792-013-9867-7. Epub 2013 Oct 10.

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Ophthalmology. 2010 Mar;117(3):615-22. doi: 10.1016/j.ophtha.2009.08.023. Epub 2009 Dec 22.

Dyskeratosis congenita, stem cells and telomeres.

Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7.

A boy with breathlessness, digital clubbing and central cyanosis.

Eur J Pediatr. 2004 Feb;163(2):129-30. doi: 10.1007/s00431-003-1368-7. Epub 2003 Dec 3.

本文引用的文献

Dyskeratosis congenita: an autosomal dominant disorder.

J Am Acad Dermatol. 1982 Jun;6(6):1034-9. doi: 10.1016/s0190-9622(82)80100-x.

Dyskeratosis congenita: survival, sister-chromatid exchange and repair following treatments with crosslinking agents.

Mutat Res. 1982 Mar;103(3-6):327-32. doi: 10.1016/0165-7992(82)90062-8.

Progressive immune failure in dyskeratosis congenita. Report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed.

Arch Intern Med. 1984 Feb;144(2):397-9.

Dyskeratosis congenita: two examples of this multisystem disorder.

Pediatrics. 1983 Apr;71(4):603-9.

Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts.

Carcinogenesis. 1983;4(7):795-9. doi: 10.1093/carcin/4.7.795.

Dyskeratosis congenita: radiologic features.

Pediatr Radiol. 1982;12(1):31-6. doi: 10.1007/BF01221708.

Congenital dyskeratosis. Zinsser-Engman-Cole syndrome with thymic dysplasia and aplastic anemia.

Am J Dis Child. 1972 Nov;124(5):701-4. doi: 10.1001/archpedi.1972.02110170079012.

Dyskeratosis congenita with hypoplastic anemia: a stem cell defect.

Am J Hematol. 1985 Sep;20(1):85-7. doi: 10.1002/ajh.2830200112.

Dyskeratosis congenita with pancytopenia.

Clin Exp Dermatol. 1985 Jan;10(1):73-8. doi: 10.1111/j.1365-2230.1985.tb02555.x.

Avascular necrosis of bone in dyskeratosis congenita.

Am J Med. 1986 Mar;80(3):511-3. doi: 10.1016/0002-9343(86)90730-8.