The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation-Reference-Cited by-同舟云学术

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

Published:2013-08-27 Issue:1 Volume:133 Page:29-39
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-013-1351-y.pdf

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