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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.
2016
2016
Pipe-soil interaction model for current-induced pipeline instability on a sloping sandy seabed
As offshore exploitation moves to deeper waters, ocean currents become the prevailing hydrodynamic loads on pipelines, and at the… 
2015
2015
MILLER, DANIEL. Trecos, Troços e coisas: Estudos antropo. lógicos sobre a cultura material. Tradução: Renato Aguiar. Rio de Janeiro: Zahar, 2013
Com formacao inicial em arqueologia e em seguida, antropologia e  arqueologia, Daniel Miller tem diferentes trabalhos publicados… 
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
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… 
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
Highly Cited
1989
Highly Cited
1989
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and… 
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… 
1974
1974
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.
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