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

Document Type

Journal

Author

Writzl, K.; Maver, A.; Kovacic, L.; Martinez-Valero, P.; Contreras, L.; Satrustegui, J.; Castori, M.; Faivre, L.; Lapunzina, P.; van Kuilenburg, A. B. P.; Radovic, S.; Thauvin, C.; Peterlin, B.; del Arco, A.; Hennekam, R. C.

Source

EUROPEAN JOURNAL OF HUMAN GENETICS; JUL 2019, 27 p815-p816, 2p. Supplement: 1

Subject

Language

English

ISSN

14765438

Online Access

Full Text (ProQuest Central) Web of Science JCR 저널정보 Find it@PNU

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