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Bjørn Tvedt

Oslo University Hospital

5

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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

2015 Human Molecular Genetics
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Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

2013 Orphanet Journal of Rare Diseases
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Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG

2004 Clinical Dysmorphology
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Citations (14)