一名阿米什儿童患软骨毛发发育不全、T细胞功能缺陷及先天性纯红细胞再生障碍性贫血。 - Suppr

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超能文献

Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child.

作者信息

Harris R E, Baehner R L, Gleiser S, Weaver D D, Hodes M E

出版信息

Am J Med Genet. 1981;8(3):291-7. doi: 10.1002/ajmg.1320080306.

DOI:10.1002/ajmg.1320080306

PMID:6972168

Abstract

摘要

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Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child.一名阿米什儿童患软骨毛发发育不全、T细胞功能缺陷及先天性纯红细胞再生障碍性贫血。

Am J Med Genet. 1981;8(3):291-7. doi: 10.1002/ajmg.1320080306.

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Clin Invest Med. 1979;2(4):175-81.

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In vitro T- and B-cell reactivity in cartilage hair hypoplasia.软骨毛发发育不全的体外T细胞和B细胞反应性

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Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases.软骨毛发发育不全综合征：两例病例的免疫学评估

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Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder.伴有正常智力、免疫缺陷和淋巴网状系统恶性肿瘤风险的家族性小头畸形：一种新的常染色体隐性疾病。

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The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family.同一家族中同胞的皮肤皱纹综合征和软骨毛发发育不全（一种新的变异型？）

Prog Clin Biol Res. 1982;104:205-14.

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引用本文的文献

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.软骨毛发发育不全：特征与骨科表现

J Child Orthop. 2015 Apr;9(2):145-52. doi: 10.1007/s11832-015-0646-z. Epub 2015 Mar 13.

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.软骨毛发发育不全——108例芬兰患者的临床表现

Eur J Pediatr. 1993 Mar;152(3):211-7. doi: 10.1007/BF01956147.

Cartilage-hair hypoplasia.软骨毛发发育不全

J Med Genet. 1995 Jan;32(1):39-43. doi: 10.1136/jmg.32.1.39.

Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.患有软骨毛发发育不全且有贫血病史的患者造血祖细胞体外集落形成存在缺陷。

Eur J Pediatr. 1995 Jan;154(1):30-4. doi: 10.1007/BF01972969.

Incidence of familial Hodgkin's disease.家族性霍奇金病的发病率。

Br J Cancer. 1983 May;47(5):707-12. doi: 10.1038/bjc.1983.109.

Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency.伴有血小板减少性紫癜、自身免疫性溶血性贫血和细胞介导免疫缺陷的软骨毛发发育不全。

J R Soc Med. 1986 Feb;79(2):113-4. doi: 10.1177/014107688607900216.

Heterogeneity of genome rearrangements in rotaviruses isolated from a chronically infected immunodeficient child.从一名慢性感染免疫缺陷儿童分离出的轮状病毒基因组重排的异质性。

J Virol. 1987 Nov;61(11):3365-72. doi: 10.1128/JVI.61.11.3365-3372.1987.

Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia.婴儿期软骨毛发发育不全：一种易误导的软骨发育异常。

Eur J Pediatr. 1991 Oct;150(12):847-51. doi: 10.1007/BF01955006.

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