Sökning: onr:"swepub:oai:DiVA.org:uu-382813" >
Exome sequencing in...
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Angius, AndreaCNR, Ist Ric Genet & Biomed, Cagliari, Italy
(författare)
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses
- Artikel/kapitelEngelska2019
Förlag, utgivningsår, omfång ...
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2019-03-28
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WILEY,2019
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-382813
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-382813URI
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https://doi.org/10.1111/cge.13532DOI
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Språk:engelska
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Sammanfattning på:engelska
Ingår i deldatabas
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in NALCN, MAGEL2 and SCN2A. They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf-Yang syndrome, and the early infantile epileptic encephalopathy-11 syndrome. These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for clinicians. Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow-up.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Uva, PaoloCtr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy
(författare)
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Oppo, ManuelaCNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy
(författare)
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Buers, InsaMunster Univ, Cells Mot Cluster Excellence, Munster, Germany;Munster Univ, Childrens Hosp, Dept Gen Pediat, Munster, Germany
(författare)
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Persico, IvanaCNR, Ist Ric Genet & Biomed, Cagliari, Italy
(författare)
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Onano, StefanoCNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy
(författare)
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Cuccuru, GianmauroCtr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy
(författare)
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Van Allen, Margot I.Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada;BC Childrens & Womens Hlth Ctr, Prov Hlth Serv Author, Vancouver, BC, Canada;Victoria Isl Hlth Author, Dept Med Genet, Victoria, BC, Canada
(författare)
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Hulait, GurdipBC Childrens & Womens Hlth Ctr, Prov Hlth Serv Author, Vancouver, BC, Canada
(författare)
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Aubertin, GudrunVictoria Isl Hlth Author, Dept Med Genet, Victoria, BC, Canada
(författare)
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Muntoni, FrancescoUCL Great Ormond St Hosp, Dubowitz Neuromuscular Ctr, London, England;Univ Hosp Wales, Inst Med Genet, Cardiff, S Glam, Wales
(författare)
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Fry, Andrew E.
(författare)
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Annerén, Göran,1945-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)goraanne
(författare)
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Stattin, EvalenaUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab(Swepub:uu)evast375
(författare)
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Palomares-Bralo, Maria
(författare)
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Santos-Simarro, Fernando
(författare)
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Cucca, FrancescoCNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy
(författare)
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Crisponi, GiangiorgioClin St Anna, Cagliari, Italy
(författare)
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Rutsch, FrankMunster Univ, Cells Mot Cluster Excellence, Munster, Germany;Munster Univ, Childrens Hosp, Dept Gen Pediat, Munster, Germany
(författare)
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Crisponi, LauraCNR, Ist Ric Genet & Biomed, Cagliari, Italy;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy
(författare)
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CNR, Ist Ric Genet & Biomed, Cagliari, ItalyCtr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Clinical Genetics: WILEY95:5, s. 607-6140009-91631399-0004
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Till lärosätets databas
- Av författaren/redakt...
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Angius, Andrea
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Uva, Paolo
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Oppo, Manuela
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Buers, Insa
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Persico, Ivana
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Onano, Stefano
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visa fler...
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Cuccuru, Gianmau ...
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Van Allen, Margo ...
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Hulait, Gurdip
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Aubertin, Gudrun
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Muntoni, Frances ...
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Fry, Andrew E.
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Annerén, Göran, ...
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Stattin, Evalena
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Palomares-Bralo, ...
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Santos-Simarro, ...
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Cucca, Francesco
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Crisponi, Giangi ...
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Rutsch, Frank
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Crisponi, Laura
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Uppsala universitet