TY  - GEN
AU  - Gordon,Christopher T
AU  - Chopra,Maya
AU  - Oufadem,Myriam
AU  - Alibeu,Olivier
AU  - Bras,Marc
AU  - Boddaert,Nathalie
AU  - Bole-Feysot,Christine
AU  - Nitschké,Patrick
AU  - Abadie,Véronique
AU  - Lyonnet,Stanislas
AU  - Amiel,Jeanne
TI  - MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence
SN  - 1552-4833
PY  - 2018///0621
KW  - Brain
KW  - abnormalities
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Loss of Function Mutation
KW  - Magnetic Resonance Imaging
KW  - methods
KW  - Male
KW  - Mediator Complex
KW  - genetics
KW  - Phenotype
KW  - Pierre Robin Syndrome
KW  - diagnosis
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.38536
ER  -