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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
- Eggens, Veerle Rc (author)
- Barth, Peter G (author)
- Niermeijer, Jikke-Mien F (author)
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- Berg, Jonathan N (author)
- Dixit, Abhijit (author)
- Fluss, Joel (author)
- Foulds, Nicola (author)
- Fowler, Darren (author)
- Hortobágyi, Tibor (author)
- Jacques, Thomas (author)
- King, Mary D (author)
- Makrythanasis, Periklis (author)
- Máté, Adrienn (author)
- Nicoll, James Ar (author)
- O Rourke, Declan (author)
- Price, Sue (author)
- Williams, Andrew N (author)
- Wilson, Louise (author)
- Suri, Mohnish (author)
- Sztriha, Laszlo (author)
- Dijns-de Wissel, Marit B (author)
- van Meegen, Mia T (author)
- van Ruissen, Fred (author)
- Aronica, Eleonora (author)
- Troost, Dirk (author)
- Majoie, Charles Blm (author)
- Marquering, Henk A (author)
- Poll-Thé, Bwee Tien (author)
- Baas, Frank (author)
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- (creator_code:org_t)
- 2014-02-13
- 2014
- English.
- In: Orphanet journal of rare diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 9:1
- Journal article (peer-reviewed)
Abstract
Subject headings
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- Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
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- ref (subject category)
- art (subject category)
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- Eggens, Veerle R ...
- Barth, Peter G
- Niermeijer, Jikk ...
- Berg, Jonathan N
- Darin, Niklas, 1 ...
- Dixit, Abhijit
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- Fluss, Joel
- Foulds, Nicola
- Fowler, Darren
- Hortobágyi, Tibo ...
- Jacques, Thomas
- King, Mary D
- Makrythanasis, P ...
- Máté, Adrienn
- Nicoll, James Ar
- O Rourke, Declan
- Price, Sue
- Williams, Andrew ...
- Wilson, Louise
- Suri, Mohnish
- Sztriha, Laszlo
- Dijns-de Wissel, ...
- van Meegen, Mia ...
- van Ruissen, Fre ...
- Aronica, Eleonor ...
- Troost, Dirk
- Majoie, Charles ...
- Marquering, Henk ...
- Poll-Thé, Bwee T ...
- Baas, Frank
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- MEDICAL AND HEALTH SCIENCES
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- and Pediatrics
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- University of Gothenburg
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