TY  - GEN
AU  - Moosa,Shahida
AU  - Fano,Virginia
AU  - Obregon,Maria Gabriela
AU  - Altmüller,Janine
AU  - Thiele,Holger
AU  - Nürnberg,Peter
AU  - Nishimura,Gen
AU  - Wollnik,Bernd
TI  - A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
SN  - 1552-4833
PY  - 2018///0129
KW  - Abnormalities, Multiple
KW  - diagnostic imaging
KW  - Child, Preschool
KW  - Founder Effect
KW  - Growth Disorders
KW  - Hernia
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Joint Instability
KW  - Male
KW  - Mitochondrial Precursor Protein Import Complex Proteins
KW  - Mitochondrial Proteins
KW  - genetics
KW  - Mutation
KW  - Phenotype
KW  - Psychomotor Disorders
KW  - Survival Analysis
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37823
ER  -