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Paper Details

Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Hum Mutat
6
2019
16q22, Early infantile-onset, HSPG2, NM_016373.3 transcript, NM_130791, UPD, Undiagnosed Diseases, WWOX, WWOX gene, atrial septum defect, autosomal recessive disorder, chromosome 16, chronic respiratory failure, early infantile epileptic encephalopathies, epileptic encephalopathy, exon 6, facial dysmorphisms, girl, infantile-onset seizures, intellectual disability, mRNA, patient, seizures, short-chain dehydrogenase, skeletal abnormalities, uniparental disomy
Author NameAffiliation
Mariska Davids
Mariska Davids
Thomas C Markello
Thomas C MarkelloOffice of the Clinical Director
Lynne A Wolfe
Lynne A WolfeOffice of the Clinical Director
Lynne A Wolfe
Lynne A WolfeOffice of the Clinical Director
Cynthia J Tifft
Cynthia J TifftOffice of the Clinical Director
Cynthia J Tifft
Cynthia J TifftOffice of the Clinical Director
William A Gahl
William A GahlOffice of the Clinical Director
William A Gahl
William A GahlOffice of the Clinical Director
May Christine V Malicdan
May Christine V MalicdanOffice of the Clinical Director
May Christine V Malicdan
May Christine V MalicdanOffice of the Clinical Director
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Datasets

Release 1.2