A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.

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作者信息

Passwell J, Zipperkowski L, Katznelson D, Szeinberg A, Crispin M, Pollak S, Goodman R, Bat-Miriam M, Cohen B E

出版信息

J Pediatr. 1973 Mar;82(3):466-71. doi: 10.1016/s0022-3476(73)80122-2.

DOI:10.1016/s0022-3476(73)80122-2

PMID:4698934

Abstract

摘要

相似文献

A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.

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Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.泰伊综合征或IBIDS综合征。一例伴有生长发育迟缓、先天性鱼鳞病和脆发的病例。

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Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.

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引用本文的文献

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.鱼鳞病、性腺功能减退、智力发育迟缓及癫痫综合征的遗传异质性。对两名Rud综合征患者的临床及生化研究并文献复习。

Eur J Pediatr. 1983 Oct;141(1):8-13. doi: 10.1007/BF00445661.

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.一种具有特殊面容、手指异常和鱼鳞病的新型隐性综合征。

J Med Genet. 1989 May;26(5):339-42. doi: 10.1136/jmg.26.5.339.

Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome.范科尼综合征、鱼鳞病、畸形、黄疸和腹泻——一种新综合征。

Pediatr Nephrol. 1990 Jul;4(4):308-13. doi: 10.1007/BF00862505.

The Sjögren-Larsson syndrome. A case report.舍格伦-拉尔松综合征。病例报告。

J Neurol. 1977 Feb 17;214(3):217-24. doi: 10.1007/BF00316152.

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