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Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Lina Basel-Vanagaite; Rüstem Yilmaz; Sha Tang; Miriam S. Reuter; Nils Rahner; Dorothy K. Grange; Megan Mortenson; Patrick Koty; Heather Feenstra; Kelly D. Farwell Gonzalez; Heinrich Sticht; Nathalie Boddaert; Julie Désir; Kwame Anyane-Yeboa; Christiane Zweier; André Reis; Christian Kubisch; Tamison Jewett; Wenqi Zeng; Guntram Borck
Human Genetics · Vol. 133, Issue 7 · pp. 939-949 · 2014
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2014-07-01
Publication Year2014
Volume133
Issue7
Pages939-949
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-014-1436-2

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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