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Cerebrooculofacioskeletal Syndrome 1

Known as: Cofs Syndrome, Pena-Shokeir Syndrome, Type II, Cerebrooculofacioskeletal Syndrome 
A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is… 
National Institutes of Health

Related topics

Related topics

26 relations
Agenesis of corpus callosumArthrogryposisAutosomal recessive inheritanceBlepharophimosis

Broader (1)

Cockayne Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Functional and molecular genetic analyses of nine newly identified XPD‐deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes
The xeroderma pigmentosum (XP) group D protein is involved in nucleotide excision repair (NER) as well as in basal transcription… 
2006
2006
Electrical Characterization of NCP- and NCF-Bonded Fine-Pitch Flip-Chip-on-Flexible Packages
Electronic portable devices are aimed towards higher response speed with a better viewing resolution display. Nonconductive paste… 
Review
2006
Review
2006
Performing Pedagogy: Toward an Art of Politics
Performing Pedagogy: Toward an Art of Politics Charles R. Garoian (1999). Albany, NY: SUNY Press. 248 pages. ISBN 0-7914-4324… 
Review
2004
Review
2004
MICRO syndrome: An entity distinct from COFS syndrome
Children born with the findings of microcephaly, cataracts and microcornea can result not only from a prenatal viral infection… 
2004
2004
Vale la pena recuperar pasturas degradadas? Una evaluación de los beneficios y costos desde la perspectiva de los productores y extensionistas pecuarios en Honduras
2003
2003
Bienestar socioeconómico de los municipios gallegos: una aproximación a su medida
El objetivo final de este trabajo es llegar a una comparacion territorial entre los municipios gallegos en lo referente al nivel… 
2000
2000
Countervisions: Asian American Film Criticism
List of Illustrations Acknowledgments 1. Introduction: On Asian American Film and Criticism --Darrell Y. Hamamoto Part I… 
Review
1997
Review
1997
Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
1991
1991
Cerebro-oculo-facio-skeletal syndrome: further delineation.
We report on a newborn infant with cerebro-oculo-facio-skeletal (COFS) syndrome. Congenital muscular dystrophy-like changes were… 
1976
1976
Further evidence'for the autosomal‐recessive inheritance of the COFS syndrome
Recently, Pena & Shokeir (1974) and Preus & Fraser (1974) described a new syndrome of multiple congenital malformations… 
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