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Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

作者信息

Pollitt R J, Jenner F A, Davies M

出版信息

Arch Dis Child. 1968 Apr;43(228):211-6. doi: 10.1136/adc.43.228.211.

DOI:10.1136/adc.43.228.211
PMID:5645693
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019837/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/bfa1a891ccb9/archdisch01557-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/7c9237d26484/archdisch01557-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/1da46ed6243c/archdisch01557-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/bfa1a891ccb9/archdisch01557-0079-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/7c9237d26484/archdisch01557-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/1da46ed6243c/archdisch01557-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/bfa1a891ccb9/archdisch01557-0079-a.jpg

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1
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.患有智力和身体发育迟缓以及结节性脆发病且头发氨基酸组成异常的同胞。
Arch Dis Child. 1968 Apr;43(228):211-6. doi: 10.1136/adc.43.228.211.
2
Trichorrhexis nodosa and amino acid metabolism.结节性脆发病与氨基酸代谢
Arch Dermatol. 1962 Oct;86:391. doi: 10.1001/archderm.1962.01590100005001.
3
Generalized trichorrhexis nodosa.
Br J Dermatol. 1980 Jul;103(1):85-90. doi: 10.1111/j.1365-2133.1980.tb15842.x.
4
Amino-acid composition in trichorrhexis nodosa.结节性脆发病中的氨基酸组成。
Clin Exp Dermatol. 1990 Jan;15(1):24-8. doi: 10.1111/j.1365-2230.1990.tb02013.x.
5
Arginosuccinicaciduria. The hair abnormality.精氨琥珀酸尿症。毛发异常。
Am J Dis Child. 1974 May;127(5):724-7. doi: 10.1001/archpedi.1974.02110240110017.
6
Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.伴有面部畸形、结节性脆发症和肝硬化的婴儿难治性腹泻。
Pediatr Dermatol. 2003 Sep-Oct;20(5):432-5. doi: 10.1046/j.1525-1470.2003.20514.x.
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Diagnosis of trichothiodystrophy in 2 siblings.两名兄弟姐妹毛发硫营养不良症的诊断
Dermatology. 1997;194(1):74-6. doi: 10.1159/000246064.
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Trichorrhexis nodosa. Clinical and investigative studies.结节性脆发症。临床与研究报告。
Arch Dermatol. 1966 Nov;94(5):577-85. doi: 10.1001/archderm.94.5.577.
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Pollitt syndrome patients carry mutation in TTDN1.波利特综合征患者携带TTDN1基因突变。
Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec.
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Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.氧化和能量代谢作为核苷酸切除修复障碍临床异质性的潜在线索。
J Invest Dermatol. 2015 Feb;135(2):341-351. doi: 10.1038/jid.2014.365. Epub 2014 Oct 9.
3
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.

本文引用的文献

1
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.一种伴性隐性疾病，伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。
Pediatrics. 1962 May;29:764-79.
2
Argininosuccinic aciduria, an inborn error of amino acid metabolism.精氨琥珀酸尿症，一种氨基酸代谢的先天性疾病。
Arch Dis Child. 1961 Dec;36(190):622-32. doi: 10.1136/adc.36.190.622.
3
A SEX-LINKED DISORDER WITH MENTAL AND PHYSICAL RETARDATION CHARACTERIZED BY CEREBROCORTICAL ATROPHY AND INCREASE OF GLUTAMIC ACID IN THE CEREBROSPINAL FLUID.
XPD（ERCC2）基因突变对毛发硫营养不良症或着色性干皮病患者母亲妊娠及产前发育的影响。
Eur J Hum Genet. 2012 Dec;20(12):1308-10. doi: 10.1038/ejhg.2012.90. Epub 2012 May 23.
4
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.毛发硫营养不良：对112例已发表病例的系统评价描绘了广泛的临床表现谱。
J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25.
5
DNA repair: dynamic defenders against cancer and aging.DNA修复：抵御癌症和衰老的动态卫士。
PLoS Biol. 2006 Jun;4(6):e203. doi: 10.1371/journal.pbio.0040203. Epub 2006 Jun 13.
6
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.非光敏感型毛发硫营养不良中C7orf11（TTDN1）基因突变及遗传异质性的鉴定
Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11.
7
Mental retardation, short stature and brittle hair (BIDS syndrome; hair brain syndrome).智力发育迟缓、身材矮小和头发脆弱（BIDS综合征；毛发脑综合征）。
Indian J Pediatr. 1996 Jan-Feb;63(1):117-20. doi: 10.1007/BF02823882.
8
The Sabinas syndrome.萨维纳斯综合征。
Am J Hum Genet. 1981 Nov;33(6):957-67.
9
Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.两名面容异常、头皮毛发干异常的同胞出现不明原因腹泻和发育不良：一种新综合征。
Arch Dis Child. 1982 Mar;57(3):212-6. doi: 10.1136/adc.57.3.212.
10
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.毛发硫营养不良-波利特神经皮肤综合征：两例非亲缘关系病例报告。
J Med Genet. 1984 Aug;21(4):286-9. doi: 10.1136/jmg.21.4.286.
一种伴有智力和身体发育迟缓的性连锁疾病，其特征为大脑皮质萎缩和脑脊液中谷氨酸增加。
Tohoku J Exp Med. 1964 Aug 25;83:261-9. doi: 10.1620/tjem.83.261.
4
COPPER DEFICIENCY IN INFANCY.婴儿期铜缺乏症
Pediatrics. 1964 Sep;34:324-36.
5
[A MULTIDIMENSIONAL TECHNIC FOR THE CHROMATOGRAPHIC IDENTIFICATION OF AMINO ACID].一种用于氨基酸色谱鉴定的多维技术
J Chromatogr. 1963 Nov;12:329-41. doi: 10.1016/s0021-9673(01)83693-1.
6
Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies.精氨基琥珀酸尿症：一种新描述的精神疾病中异常代谢产物的鉴定与反应，以及一些初步的代谢研究
Biochem J. 1960 Oct;77(1):135-44. doi: 10.1042/bj0770135.
7
Tissue sulfhydryl groups.组织巯基
Arch Biochem Biophys. 1959 May;82(1):70-7. doi: 10.1016/0003-9861(59)90090-6.
8
A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.一种可能为遗传性的疾病，其特征为严重智力缺陷和氨基酸代谢持续明显异常。
Lancet. 1958 Jan 25;1(7013):182-7. doi: 10.1016/s0140-6736(58)90666-4.
9
Studies of tocopherol deficiency in infants and children. I. Hemolysis of erythrocytes in hydrogen peroxide.婴幼儿维生素E缺乏症的研究。I. 红细胞在过氧化氢中的溶血作用。
AMA Am J Dis Child. 1955 Dec;90(6):669-81. doi: 10.1001/archpedi.1955.04030010671002.
10
Arginosuccine aciduria.精氨琥珀酸尿症
Am J Dis Child. 1967 Jan;113(1):162-5.