Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessive disorder-Reference-Cited by-同舟云学术

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Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessive disorder

Published:2000 Issue:3 Volume:95 Page:247-265
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Quadrelli Roberto,Vaglio Alicia,Reyno Soraya,Lemes Aida,Salazar Denise,Lachman Ralph S.,Wilcox William R.

Publisher

Wiley

Subject

Genetics(clinical)

Reference8 articles.

1. 1997. Principles and practice of medical genetics. Edinburgh: Churchill.

2. London Dysmorphology Database. 1995. Oxford: Oxford University Press.

3. 1994. Mendelian inheritance in man: a catalog of human genes and genetic disorders, 11th ed. Baltimore, MD: The John Hopkins University Press.

4. OMIM. 1998. Mc Kusick's on line Mendelian inheritance in man http://www3.ncbi.nlm.nih.gov/Omim/.

5. Possum 5.0 (computer software). 1998. Melbourne, Australia: The Murdock Institute for Research into Birth Defects.

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. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death;Circulation: Cardiovascular Genetics;2016-04

2. Sobre el carácter indiciario del método clínico: una mirada antropológica a partir de un relato de caso publicado;Salud Colectiva;2014-08-01

3. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

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