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.
Gund, Christian
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. [electronic resource] - American journal of medical genetics. Part A May 2016 - 1330-2 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.37580 doi
Adolescent
Chromosome Duplication
DNA-Binding Proteins
Exome
Humans
Intellectual Disability--genetics
Leukoencephalopathies--genetics
Male
Microcephaly--genetics
Muscle Hypotonia--genetics
Mutation
Nuclear Proteins--genetics
Pakistan
Pedigree
Sequence Analysis, DNA
Transcription Factors
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. [electronic resource] - American journal of medical genetics. Part A May 2016 - 1330-2 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.37580 doi
Adolescent
Chromosome Duplication
DNA-Binding Proteins
Exome
Humans
Intellectual Disability--genetics
Leukoencephalopathies--genetics
Male
Microcephaly--genetics
Muscle Hypotonia--genetics
Mutation
Nuclear Proteins--genetics
Pakistan
Pedigree
Sequence Analysis, DNA
Transcription Factors