A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia
about
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia
description
scientific article published on 18 May 2019
@en
name
A novel biallelic loss-of-func ...... rebro-facio-thoracic dysplasia
@en
type
label
A novel biallelic loss-of-func ...... rebro-facio-thoracic dysplasia
@en
prefLabel
A novel biallelic loss-of-func ...... rebro-facio-thoracic dysplasia
@en
P2093
P356
P1476
A novel biallelic loss-of-func ...... rebro-facio-thoracic dysplasia
@en
P2093
Abdussalam Azem
Amit Kessel
Azhar Jabareen-Masri
Holger Hengel
Ludger Schöls
Muhammad Mahajnah
P304
P356
10.1002/AJMG.A.61168
P577
2019-05-18T00:00:00Z