Nhi Thi Uyen Pham

Male Goltz Syndrome due to Postzygotic PORCN Mosaicism: A Case Report

Goltz syndrome, also known as focal dermal hypoplasia (FDH), is a rare X‐linked dominant genetic disorder caused by loss‐of‐function mutations in the PORCN gene, which is crucial for Wnt protein secretion and signaling during embryonic development. The syndrome primarily affects females, as hemizygous males with pathog...