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Paper Details

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
American Journal of Medical Genetics, Part A
22
2014
13q12, B3GALTL gene, HMGB1, HMGB1 and KATNAL1 genes, HMGB1 protein, KATNAL1, KATNAL1 genes, KATNAL1 protein, LINC00426, Peters-Plus syndrome, RefSeq genes, atopic dermatitis, autosomal recessive disorder, candidate genes, chromatin-associated gene HMGB1, chromosome 13, eczema, humans, intellectual disability, malar flattening, microcephaly, microdeletion 13q12, microtubule severing gene, patients, postnatal microcephaly, thin vermillion of the upper lip
Author NameAffiliation
Deborah BartholdiInstitute of Medical Genetics, University of Zurich
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Release 1.2