TY  - GEN
AU  - Gund,Christian
AU  - Powis,Zöe
AU  - Alcaraz,Wendy
AU  - Desai,Sonal
AU  - Baranano,Kristin
TI  - Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation
SN  - 1552-4833
PY  - 2017///0104
KW  - Adolescent
KW  - Chromosome Duplication
KW  - DNA-Binding Proteins
KW  - Exome
KW  - Humans
KW  - Intellectual Disability
KW  - genetics
KW  - Leukoencephalopathies
KW  - Male
KW  - Microcephaly
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Nuclear Proteins
KW  - Pakistan
KW  - Pedigree
KW  - Sequence Analysis, DNA
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.37580
ER  -