Journal Article

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Julia Schreml; Burak Durmaz; Ozgur Cogulu; Katharina Keupp; Filippo Beleggia; Esther Pohl; Esther Milz; Mahmut Coker; Sema Kalkan Ucar; Gudrun Nürnberg; Peter Nürnberg; Joachim Kuhn; Ferda Ozkinay

Human Genetics · Vol. 133, Issue 1 · pp. 29-39 · 2014

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2014-01-01
Publication Year	2014
Volume	133
Issue	1
Pages	29-39
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-013-1351-y

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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