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| Fetal anomalies v1.559 | PAK2 |
Elena Savva gene: PAK2 was added gene: PAK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAK2 were set to PMID: 39994693 Phenotypes for gene: PAK2 were set to ?Knobloch syndrome 2 MIM#618458 Review for gene: PAK2 was set to AMBER Added comment: Domenach (2025): bilateral pleural effusion/chylothorax in a fetus at 24 weeks. Lit review notes an additional 2/5 probands with pleural effusion (1 also having chylothorax) Sources: Literature |
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