TY  - GEN
AU  - Pedurupillay,Christeen Ramane J
AU  - Amundsen,Silja S
AU  - Barøy,Tuva
AU  - Rasmussen,Magnhild
AU  - Blomhoff,Anne
AU  - Stadheim,Barbro Fossøy
AU  - Ørstavik,Kristin
AU  - Holmgren,Asbjørn
AU  - Iqbal,Tahir
AU  - Frengen,Eirik
AU  - Misceo,Doriana
AU  - Strømme,Petter
TI  - Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
SN  - 1873-2364
PY  - 2018///0125
KW  - Child
KW  - Child, Preschool
KW  - DNA-Binding Proteins
KW  - genetics
KW  - Fatal Outcome
KW  - Female
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Respiratory Insufficiency
KW  - Siblings
KW  - Spinal Muscular Atrophies of Childhood
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2016.06.457
ER  -