De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise (Fontaine syndrome)

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TitreDe novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise (Fontaine syndrome)
Type de publicationJournal Article
Year of Publication2019
AuteursWritzl K., Maver A., Kovacic L., Martinez-Valero P., Contreras L., Satrustegui J., Castori M., Faivre L., Lapunzina P., van Kuilenburg A.BP, Radovic S., Thauvin C., Peterlin B., del Arco A., Hennekam R.C
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination815-816
Date PublishedJUL
Type of ArticleMeeting Abstract
ISSN1018-4813