A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Zafer YükselFlorian VogelAmal M AlhashemTalal S A AlanziBrahim TabarkiKapil KampeKrishna K KandaswamyMartin WerberAida M Bertoli-AvellaChristian BeetzArndt RolfsPeter BauerPublished in: Clinical genetics (2019)