Matches in SemOpenAlex for { <https://semopenalex.org/work/W2893553654> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W2893553654 endingPage "e40" @default.
- W2893553654 startingPage "e40" @default.
- W2893553654 abstract "Jalili syndrome (JS-OMIM #217080) is an autosomal recessive disease with ocular and dental manifestations, resulting in dystrophy of rods and cones in the retina and amelogenesis imperfecta. It is reported that JS is caused by mutations in locus 2q11, which encodes the metal transporter gene CNNM4. In the current report, we describe a 9-year-old girl with a diagnosis of congenital loss of vision (Leber's congenital amaurosis) and yellowish, brittle, and painless teeth (amelogenesis imperfecta). Genetic analysis revealed heterozygous missense mutations c.971T>C in exon 1 and c.1742C>G in exon 4 of CNNM4. In addition, a polymorphic variant rs41286594 in exon 5 and a noncoding mutation c.2319G>A in exon 6 were found. Our approach thus led to the identification of multiple heterozygous mutations in CNNM4, which contribute to the pathophysiology of JS. Acknowledgment: FAPEMIG and CNPq." @default.
- W2893553654 created "2018-10-05" @default.
- W2893553654 creator A5009676558 @default.
- W2893553654 creator A5021600079 @default.
- W2893553654 creator A5029843488 @default.
- W2893553654 creator A5073711369 @default.
- W2893553654 creator A5077661087 @default.
- W2893553654 creator A5089374535 @default.
- W2893553654 date "2018-09-01" @default.
- W2893553654 modified "2023-09-27" @default.
- W2893553654 title "Multiple Heterozygous Mutations in CNNM4 Cause Jalili Syndrome" @default.
- W2893553654 doi "https://doi.org/10.1016/j.oooo.2018.02.022" @default.
- W2893553654 hasPublicationYear "2018" @default.
- W2893553654 type Work @default.
- W2893553654 sameAs 2893553654 @default.
- W2893553654 citedByCount "0" @default.
- W2893553654 crossrefType "journal-article" @default.
- W2893553654 hasAuthorship W2893553654A5009676558 @default.
- W2893553654 hasAuthorship W2893553654A5021600079 @default.
- W2893553654 hasAuthorship W2893553654A5029843488 @default.
- W2893553654 hasAuthorship W2893553654A5073711369 @default.
- W2893553654 hasAuthorship W2893553654A5077661087 @default.
- W2893553654 hasAuthorship W2893553654A5089374535 @default.
- W2893553654 hasConcept C104317684 @default.
- W2893553654 hasConcept C105702510 @default.
- W2893553654 hasConcept C12125453 @default.
- W2893553654 hasConcept C127716648 @default.
- W2893553654 hasConcept C156887251 @default.
- W2893553654 hasConcept C199343813 @default.
- W2893553654 hasConcept C2777668750 @default.
- W2893553654 hasConcept C2780178515 @default.
- W2893553654 hasConcept C2781062450 @default.
- W2893553654 hasConcept C36823959 @default.
- W2893553654 hasConcept C501734568 @default.
- W2893553654 hasConcept C54355233 @default.
- W2893553654 hasConcept C63971535 @default.
- W2893553654 hasConcept C64618202 @default.
- W2893553654 hasConcept C71924100 @default.
- W2893553654 hasConcept C75563809 @default.
- W2893553654 hasConcept C86803240 @default.
- W2893553654 hasConceptScore W2893553654C104317684 @default.
- W2893553654 hasConceptScore W2893553654C105702510 @default.
- W2893553654 hasConceptScore W2893553654C12125453 @default.
- W2893553654 hasConceptScore W2893553654C127716648 @default.
- W2893553654 hasConceptScore W2893553654C156887251 @default.
- W2893553654 hasConceptScore W2893553654C199343813 @default.
- W2893553654 hasConceptScore W2893553654C2777668750 @default.
- W2893553654 hasConceptScore W2893553654C2780178515 @default.
- W2893553654 hasConceptScore W2893553654C2781062450 @default.
- W2893553654 hasConceptScore W2893553654C36823959 @default.
- W2893553654 hasConceptScore W2893553654C501734568 @default.
- W2893553654 hasConceptScore W2893553654C54355233 @default.
- W2893553654 hasConceptScore W2893553654C63971535 @default.
- W2893553654 hasConceptScore W2893553654C64618202 @default.
- W2893553654 hasConceptScore W2893553654C71924100 @default.
- W2893553654 hasConceptScore W2893553654C75563809 @default.
- W2893553654 hasConceptScore W2893553654C86803240 @default.
- W2893553654 hasIssue "3" @default.
- W2893553654 hasLocation W28935536541 @default.
- W2893553654 hasOpenAccess W2893553654 @default.
- W2893553654 hasPrimaryLocation W28935536541 @default.
- W2893553654 hasRelatedWork W1533351568 @default.
- W2893553654 hasRelatedWork W1991651726 @default.
- W2893553654 hasRelatedWork W2329070144 @default.
- W2893553654 hasRelatedWork W2349400098 @default.
- W2893553654 hasRelatedWork W2768077825 @default.
- W2893553654 hasRelatedWork W3155541108 @default.
- W2893553654 hasRelatedWork W3189132110 @default.
- W2893553654 hasRelatedWork W3201076994 @default.
- W2893553654 hasRelatedWork W4287398924 @default.
- W2893553654 hasRelatedWork W2268430446 @default.
- W2893553654 hasVolume "126" @default.
- W2893553654 isParatext "false" @default.
- W2893553654 isRetracted "false" @default.
- W2893553654 magId "2893553654" @default.
- W2893553654 workType "article" @default.