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Cerebrooculofacioskeletal Syndrome 1
Known as:
Cofs Syndrome
, Pena-Shokeir Syndrome, Type II
, Cerebrooculofacioskeletal Syndrome
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A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is…
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National Institutes of Health
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Related topics
Related topics
26 relations
Agenesis of corpus callosum
Arthrogryposis
Autosomal recessive inheritance
Blepharophimosis
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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
F. Gao
,
Ning Wang
,
Jinhui Li
,
Xi-ting Han
2016
Corpus ID: 73516907
As offshore exploitation moves to deeper waters, ocean currents become the prevailing hydrodynamic loads on pipelines, and at the…
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2015
2015
MILLER, DANIEL. Trecos, Troços e coisas: Estudos antropo. lógicos sobre a cultura material. Tradução: Renato Aguiar. Rio de Janeiro: Zahar, 2013
R. Velasquez
2015
Corpus ID: 192499417
Com formacao inicial em arqueologia e em seguida, antropologia e arqueologia, Daniel Miller tem diferentes trabalhos publicados…
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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
A. Schäfer
,
A. Gratchev
,
+10 authors
S. Emmert
Experimental Dermatology
2013
Corpus ID: 31494766
The xeroderma pigmentosum (XP) group D protein is involved in nucleotide excision repair (NER) as well as in basal transcription…
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2006
2006
Electrical Characterization of NCP- and NCF-Bonded Fine-Pitch Flip-Chip-on-Flexible Packages
Y. Chan
,
S.C. Tan
,
N.S.M. Lui
,
C. Tan
IEEE Transactions on Advanced Packaging
2006
Corpus ID: 8743806
Electronic portable devices are aimed towards higher response speed with a better viewing resolution display. Nonconductive paste…
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Review
2004
Review
2004
MICRO syndrome: An entity distinct from COFS syndrome
J. Graham
,
R. Hennekam
,
W. Dobyns
,
E. Roeder
,
D. Busch
American Journal of Medical Genetics. Part A
2004
Corpus ID: 6902807
Children born with the findings of microcephaly, cataracts and microcornea can result not only from a prenatal viral infection…
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2000
2000
Countervisions: Asian American Film Criticism
Darrell Y. Hamamoto
,
S. Liu
2000
Corpus ID: 191114611
List of Illustrations Acknowledgments 1. Introduction: On Asian American Film and Criticism --Darrell Y. Hamamoto Part I…
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Review
1997
Review
1997
Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
T. Sakai
,
F. Kikuchi
,
S. Takashima
,
H. Matsuda
,
N. Watanabe
Brain & development (Tokyo. )
1997
Corpus ID: 24073779
Highly Cited
1989
Highly Cited
1989
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
M. Patton
,
F. Giannelli
,
A. Francis
,
M. Baraitser
,
B. Harding
,
A. Williams
Journal of Medical Genetics
1989
Corpus ID: 17578467
Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and…
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1976
1976
Further evidence'for the autosomal‐recessive inheritance of the COFS syndrome
I. Lurie
,
E. Cherstvoy
,
G. Lazjuk
,
M. Nedzved
,
S. S. Usoev
Clinical Genetics
1976
Corpus ID: 26834631
Recently, Pena & Shokeir (1974) and Preus & Fraser (1974) described a new syndrome of multiple congenital malformations…
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1974
1974
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.
S. Peña
,
M. Shokeir
Clinical Genetics
1974
Corpus ID: 12790802
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