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):

Published in:

American Journal of Medical Genetics Part A (2019), Bd. 179, H. 7, S. 1338-1345

Verlagsangabe:

Wiley

Language:

English

Full text:

ISSN:

1552-4833

DDC Classifikation:

570 - Life sciences; biology
610 - Medicine and health

Dokumentart:

Article

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