A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia

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A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia

Author: Sharkia, Rajech; Zalan, Abdelnaser; Jabareen-Masri, Azhar; Hengel, Holger; Schoels, Ludger; Kessel, Amit; Azem, Abdussalam; Mahajnah, Muhammad
Tübinger Autor(en):
Hengel, Holger
Schöls, Ludger
Published in: American Journal of Medical Genetics Part A (2019), Bd. 179, H. 7, S. 1338-1345
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/ajmg.a.61168
ISSN: 1552-4833
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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