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Article

A founder variant expands the phenotype of WNT7B-related PDAC syndrome.

Clinical genetics - 1 Jul 2024

AlAbdi Lama, Rahbeeni Zuhair, Maddirevula Sateesh, Helaby Rana, Abdulwahab Firdous, Khan Arif O, Riley Lisa G, Alhashem Amal, Chassaing Nicolas, Jamieson Robyn V, Alkuraya Fowzan S

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38417950
DOI: 10.1111/cge.14512

Genes

WNT7B
RARB
STRA6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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