De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Author: Ufartes, Roser; Berger, Hanna; Till, Katharina; Salinas, Gabriela; Sturm, Marc; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Funke, Rudolf; Apeshiotis, Neophytos; Langen, Hendrik; Wollnik, Bernd; Borchers, Annette; Pauli, Silke
Tübinger Autor(en):
Sturm, Marc
Published in: Human Genetics (), Bd.
Verlagsangabe: Springer
Language: English
Full text: http://dx.doi.org/10.1007/s00439-020-02175-x
ISSN: 1432-1203
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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