A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1

Clin Dysmorphol. 2020 Apr;29(2):107-110. doi: 10.1097/MCD.0000000000000314.

Authors

Dulika S Sumathipala¹, Doriana Misceo¹, Selma Mujezinovic Larsen², Tuva Barøy¹, Thilini H Gamage¹, Eirik Frengen¹, Petter Strømme^{2

3}

Affiliations

¹ Department of Medical Genetics, Oslo University Hospital and University of Oslo.
² Department of Paediatric Neurology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital.
³ Faculty of Medicine, University of Oslo, Oslo, Norway.

PMID: 31929336
DOI: 10.1097/MCD.0000000000000314

No abstract available

Publication types

Case Reports

MeSH terms

Brain / abnormalities
Brain / diagnostic imaging
Child
Chromosome Banding
DNA-Binding Proteins / genetics*
Electroencephalography
Facies
Female
Homozygote*
Humans
Magnetic Resonance Imaging
Mutation*
Neurodevelopmental Disorders / diagnosis*
Neurodevelopmental Disorders / genetics*
Phenotype*
Syndrome
Thumb / abnormalities*
Transcription Factors / genetics*

Substances

DEAF1 protein, human
DNA-Binding Proteins
Transcription Factors