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De Sanctis-Cacchione syndrome
Known as:
Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia
, xerodermic idiocy
, DeSanctis Cacchione syndrome
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A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and…
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National Institutes of Health
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Related topics
Related topics
4 relations
Broader (4)
Dwarfism
Hypogonadism
Intellectual Disability
Xeroderma Pigmentosum
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
The Intersection of IT and workforce management : A maturing research field
T. Bondarouk
,
Hubertus Johannes Maria Ruel
2010
Corpus ID: 18769119
The field of electronic HRM and Human Resource Information Systems (HRISs) has developed very rapidly over recent years. Already…
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2009
2009
Exploration Strategy for the Ice Dwarf Planets 2013-2022
W. Grundy
,
L. Observatory
,
+9 authors
Knoxville Tn
2009
Corpus ID: 16213457
W.M. Grundy Lowell Observatory, Flagstaff AZ W.Grundy@lowell.edu W.B. McKinnon Washington Univ., St. Louis MO mckinnon@wustl.edu…
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2004
2004
Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione syndrome
N. Okada
,
Y. Kitano
Archives of Dermatological Research
2004
Corpus ID: 13026352
SummaryThe normal senescent fibroblasts in culture accumulate a significantly high proportion of altered enzymes, and the…
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1989
1989
[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome].
T. Konishi
,
H. Horikawa
,
T. Nakamuro
,
Y. Mano
,
T. Takayanagi
Rinshō shinkeigaku Clinical neurology
1989
Corpus ID: 31436192
Multi-modality evoked potentials in two cases, who were siblings, of De Sanctis-Cacchione syndrome were reported. The case 1, who…
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1985
1985
De Sanctis Sante
P. Guarnieri
1985
Corpus ID: 80192135
1980
1980
Crónica silense o Crónica Dominis Sanctis
J. M. C. Sánchez-Pagín
1980
Corpus ID: 190009345
L'auteur de la Chronique dite de Silos est un clunysien de Leon, tres probablement| c'est peut-etre l'abbe de Sahagun Pedro Munoz…
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1980
1980
On Francesco de Sanctis and RealismDe Sanctis e il realismo
Dante Della Terza
,
F. Sanctis
1980
Corpus ID: 185674642
1978
1978
内分泌異常を伴ったDe Sanctis-Cacchione症候群の3例
嶋崎 元子
1978
Corpus ID: 175034445
1963
1963
[2 cases of amuarotic idiocy. (Atypical forms)].
A. D. da Fonseca
Jornal do medico
1963
Corpus ID: 9463468
1962
1962
Juvenile and late forms of amaurotic idiocy in one family
W. Zeman
,
J. Hoffman
Journal of Neurology Neurosurgery & Psychiatry
1962
Corpus ID: 10281904
Amaurotic idiocy is conventionally defined as a genetically controlled sphingolipidosis which occurs in five forms of which the…
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