A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

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dc.contributor.authorStokman, Lara
dc.contributor.authorNossent, Esther J.
dc.contributor.authorGrunberg, Katrien
dc.contributor.authorMeijboom, Lilian
dc.contributor.authorYakicier, Mustafa C.
dc.contributor.authorVoorhoeve, Els
dc.contributor.authorHouweling, Arjan C.
dc.date.accessioned2023-02-21T12:34:08Z
dc.date.available2023-02-21T12:34:08Z
dc.date.issued2016-01-01
dc.description.abstractKey Clinical Message With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease.
dc.description.issue4
dc.description.issueAPR
dc.description.pages412-415
dc.description.volume4
dc.identifier.doi10.1002/ccr3.532
dc.identifier.urihttps://hdl.handle.net/11443/1673
dc.identifier.urihttp://dx.doi.org/10.1002/ccr3.532
dc.identifier.wosWOS:000374011700026
dc.publisherWILEY
dc.relation.ispartofCLINICAL CASE REPORTS
dc.subjectHomozygous whole gene deletion
dc.subjectpulmonary alveolar microlithiasis
dc.subjectSLC34A2
dc.subjectSNP array
dc.titleA case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
dc.typeArticle

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