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De Sanctis-Cacchione syndrome

Known as: Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia, xerodermic idiocy, DeSanctis Cacchione syndrome 
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and… Expand
National Institutes of Health

Related topics

Related topics

4 relations

Broader (4)

DwarfismHypogonadismIntellectual DisabilityXeroderma Pigmentosum

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Human Resource Information Systems (HRIS) in HR Planning and Development in Mid to Large Sized Organizations
Abstract The role of HRM has changed altogether from a traditional (popularly called personnel management) to a strategic one… Expand
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2013
2013
De Sanctis-Cacchione Syndrome in a female infant - Case report*
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly… Expand
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2011
2011
Surface Composition of Vesta: Issues and Integrated Approach
The instruments on the Dawn spacecraft are exceptionally well suited to characterize and map the surface composition of Vesta in… Expand
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2009
2009
The Mechanics of Marine Sediment Gravity Flows
Sediment gravity flows, particularly those in the marine environment, are dynamically interesting because of the non-linear… Expand
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Highly Cited
2007
Highly Cited
2007
Dawn Mission to Vesta and Ceres
The initial exploration of any planetary object requires a careful mission design guided by our knowledge of that object as… Expand
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1982
1982
The peripheral neuropathy in de Sanctis-Cacchione syndrome
SummaryHistological, ultrastructural, and morphometric studies were performed on nerve and muscle biopsies from three patients… Expand
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1973
1973
Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies.
A clinical description is given of a uniform series of 15 patients with a progressive encephalopathy. The disease had its… Expand
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1973
1973
Use of UV endonuclease from Micrococcus luteus to monitor the progress of DNA repair in UV-irradiated human cells.
Abstract A sensitive enzymatic assay has been developed to follow the progress of NDA repair in human cells exposed to UV… Expand
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1973
1973
Repair replication in heterokaryons deprived from different repair-deficient xeroderma pigmentosum strains.
Abstract Repair replication was studied in UV-irradiated cell populations obtained after fusion of cell strains originating from… Expand
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1965
1965
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.
Two brothers and a sister and brother with the de Sanctis-Cacchione syndrome (xeroderma pigmentosum, microcephaly, mental… Expand
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