Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

Author:

Labrune P,Assathiany R,Penso D,Odievre M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. The Ermine phenotype: pigmentary-hearing loss heterogeneity;O'Doherty, N.J.; Gorlin, R.J.;Am J Med Genet,1988

2. Progressive spastic paraparesis, vitiligo, premature graying and distinct facial appearance: a new genetic syndrome in three siblings;Lison, M.; Kornbrut, B.; Feinstein, A.;Am J Med Genet,1981

3. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome;Mukamel, M.; Weitz, R.; Metzker, A.; Varsano, I.;Am J Dis Child,1985

4. Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in five siblings;Bahemuka, M.; Brown, J.D.;Dev Med Child Neurol,1982

5. A many-fold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes;Chaganti, R.S.K.; Schonberg, S.; German, J.;Proc Natl Acad Sci USA,1974

Cited by 3 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. Lower urinary tract development and disease;Wiley Interdisciplinary Reviews: Systems Biology and Medicine;2013-02-13

2. New Syndromes First Reported Among Arabs;Genetic Disorders Among Arab Populations;2010

3. Vitiligo-spasticity syndrome: new case;Clinical Dysmorphology;2003-04

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