Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters

Author:

Crome L.,Duckett S.,Franklin A. W.

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Reference28 articles.

1. Le syndrome de Marinesco-Sjogren. Revue de la litt6rature. Trois observations personelles portant sur trois soeurs;Amyot, R.;Rev. neurol,1960

2. Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome;Bickel, H.; Thursby-Pelham, D.C.;Arch. Dis. Childh,1954

3. A combination of congenital cataract and cerebral palsy in a brother and a sister;Blumel, J.; Evans, E.B.; Eggers, G.W.N.;Arch. Ophthal,1960

4. Chromosome anomaly in two cases of cerebral palsy, a brother and a sister;Ohnuki, Y.; Awa, A.;Nature (Lond.),1961

5. L'lnsuffisance tubulaire cong6nitale avec arrieration mentale, cataracte et glaucome (Syndrome de Lowe);Debre, R.; Royer, P.; Lestradet, H.; Straub, W.;Arch. franr. Pdiat,1955

Cited by 21 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family;American Journal of Medical Genetics Part A;2009-03-16

2. Lowe syndrome: clinical and neuropathological studies of an adult case;Journal of Intellectual Disability Research;2008-06-28

3. Comprehensive Classification of Pediatric Cataracts;Annals Of Ophthalmology;2005

4. Congenital cataract and multisystem disorders;Eye;1999-05

5. References;Metabolic and Degenerative Diseases of the Central Nervous System;1995

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