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Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.

作者信息

Mirhosseini S A, Holmes L B, Walton D S

出版信息

J Med Genet. 1972 Jun;9(2):193-6. doi: 10.1136/jmg.9.2.193.

DOI:10.1136/jmg.9.2.193
PMID:5046629
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469024/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/c6a5e343aff2/jmedgene00361-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/bf38f2567b98/jmedgene00361-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/606817b30a9e/jmedgene00361-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/522d59ec485d/jmedgene00361-0060-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/74e51837d3f9/jmedgene00361-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/c6a5e343aff2/jmedgene00361-0061-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/bf38f2567b98/jmedgene00361-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/606817b30a9e/jmedgene00361-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/522d59ec485d/jmedgene00361-0060-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/74e51837d3f9/jmedgene00361-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c52b/1469024/c6a5e343aff2/jmedgene00361-0061-b.jpg

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本文引用的文献

1
Rapid micro-modification of the Zimmermann/Callow procedure for the determination of 17-ketosteroids in urine.用于测定尿中17-酮类固醇的齐默尔曼/卡洛方法的快速微改进。
Acta Endocrinol (Copenh). 1951;8(3):193-214. doi: 10.1530/acta.0.0080193.
2
The Laurence-Moon-Biedl syndrome. Report of a typical case with complete necropsy.劳伦斯-穆恩-比德尔综合征。一例典型病例及完整尸检报告。
Am J Ophthalmol. 1951 Jun;34(6):874-84.
3
Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.伴有肌萎缩、智力发育迟缓及中心性视网膜变性的家族性痉挛性截瘫
Am J Hum Genet. 1998 May;62(5):1070-6. doi: 10.1086/301821.
4
Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.一对兄妹患马茨索夫综合征：临床特征及遗传模式
Eur J Pediatr. 1988 Jun;147(5):539-43. doi: 10.1007/BF00441986.
Arch Neurol. 1959 Aug;1:133-40. doi: 10.1001/archneur.1959.03840020007002.
4
Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study.色素性视网膜炎合并先天性耳聋；部分病例伴有前庭小脑共济失调和精神异常：一项临床及遗传统计学研究。
Acta Psychiatr Scand Suppl. 1959;34(138):1-101.
5
THE METACARPAL INDEX. A USEFUL AID IN THE DIAGNOSIS OF THE MARFAN SYNDROME.掌骨指数。马方综合征诊断中的一项有用辅助指标。
Arch Intern Med. 1964 Feb;113:248-54. doi: 10.1001/archinte.1964.00280080084016.
6
Laurence-Moon-Biedl syndrome. Report of an unusual family.劳伦斯-穆恩-比德尔综合征。一个特殊家族的报告。
Am J Dis Child. 1961 Apr;101:519-24. doi: 10.1001/archpedi.1961.04020050109017.
7
A simple screening test for the Marfan syndrome.
Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):118-24. doi: 10.2214/ajr.97.1.118.
8
Chorioretinopathy with hereditary microcephaly.伴有遗传性小头畸形的脉络膜视网膜病变
Arch Ophthalmol. 1966 May;75(5):597-600. doi: 10.1001/archopht.1966.00970050599003.
9
Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.
N Engl J Med. 1969 Oct 30;281(18):969-77. doi: 10.1056/NEJM196910302811801.
10
Radioimmunoassay of human follicle stimulating and luteinizing hormones in plasma.
J Clin Endocrinol Metab. 1968 Apr;28(4):519-34. doi: 10.1210/jcem-28-4-519.