一对异卵双胞胎姐妹患有先天性鱼鳞病、智力障碍、肌病和贫血综合征。 - Suppr

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超能文献

A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters.

作者信息

Karaca Burcu

出版信息

Ann Saudi Med. 2012 Sep-Oct;32(5):547-8. doi: 10.5144/0256-4947.2012.547.

DOI:10.5144/0256-4947.2012.547

PMID:22871629

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6080989/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c74/6080989/ba7d6a5a9330/asm-5-547f1.jpg

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本文引用的文献

NETHERTON'S DISEASE; TRICHORRHEXIS INVAGINATA (BAMBOO HAIR), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA AND THE ATOPIC DIATHESIS. A HISTOPATHOLOGIC STUDY.Netherton病；套叠性脆发症（竹节状发）、先天性鱼鳞病样红皮病与特应性素质。一项组织病理学研究。

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Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.智力发育迟缓合并先天性鱼鳞病和痉挛性疾病；一项临床与遗传学研究。

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A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.一种先天性鱼鳞病、性腺功能减退、身材矮小、面部畸形、脊柱侧弯和肌源性营养不良综合征。

Ann Genet. 1999;42(1):45-50.

[A case of Rud's syndrome].

Zh Nevrol Psikhiatr Im S S Korsakova. 1993;93(5):104-6.

[A sporadic case of hereditary sensory neuropathy with tonic pupil, ichthyosis vulgaris, deafness and atypical retinitis pigmentosa (author's transl)].

Rinsho Shinkeigaku. 1980 Mar;20(3):201-8.

Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy.鲁德综合征：先天性鱼鳞病、性腺功能减退、智力发育迟缓、色素性视网膜炎和肥厚性多发性神经病。

Neuropediatrics. 1982 May;13(2):95-8. doi: 10.1055/s-2008-1059605.

An ichthyosiform dermatosis with clinical forms of congenital ichthyosiform erythroderma and ichthyosis vulgaris.

Hum Hered. 1969;19(2):121-5. doi: 10.1159/000152209.

Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder.

Arch Dermatol. 1971 Jul;104(1):4-13.

Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities.

Arch Dermatol. 1985 Sep;121(9):1149-56.

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