Article
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Human molecular genetics - 17 Dec 2021
Antonarakis Stylianos E, Holoubek Aleš, Rapti Melivoia, Rademaker Jesse, Meylan Jenny, Iwaszkiewicz Justyna, Zoete Vincent, Wilson Callum, Taylor Juliet, Ansar Muhammad, Borel Christelle, Menzel Olivier, Kuželová Kateřina, Santoni Federico A
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...
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