Article

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

2020-10-07

Abstract excerpt

Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by biallelic pathogenic variants in the COL18A1 gene. However, there are patients clinically diagnosed as Knobloch syndrome with unknown molecular etiology not linked to COL18A1 . We studied an historical pedigree (published in 1998) designated as KNO2 (Knobloch type 2 syndrome with intellect...

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Literature Corpus work: 887a702c-c186-56bc-aed2-98c464f32956
DOI: 10.1101/2020.10.06.328419

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