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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

R. S. Møller; L. R. Jensen; S. M. Maas; J. Filmus; M. Capurro; C. Hansen; C. L. M. Marcelis; K. Ravn; J. Andrieux; M. Mathieu; M. Kirchhoff; O. K. Rødningen; N. de Leeuw; H. G. Yntema; G. Froyen; J. Vandewalle; K. Ballon; E. Klopocki; S. Joss; J. Tolmie; A. C. Knegt; A. M. Lund; H. Hjalgrim; A. W. Kuss; N. Tommerup; R. Ullmann; A. P. M. de Brouwer; P. Strømme; S. Kjaergaard; Z. Tümer; T. Kleefstra
Human Genetics · Vol. 133, Issue 5 · pp. 625-638 · 2014

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2014-05-01
Publication Year2014
Volume133
Issue5
Pages625-638
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-013-1403-3

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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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