A founder variant expands the phenotype of WNT7B‐related PDAC syndrome
Lama AlAbdi,
Zuhair Rahbeeni,
Sateesh Maddirevula
et al.
Abstract:Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetically heterogeneous multiple congenital malformation syndrome. Although pathogenic variants in RARB and STRA6 are established causes of PDAC, many PDAC cases remain unsolved at the molecular level. Recently, we proposed biallelic WNT7B variants as a novel etiology based on several families with typical features of PDAC syndrome albeit with variable expressivity. Here, we report three patie… Show more
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