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| Pulmonary arterial hypertension v4.5 | FLNA |
Karen Stals gene: FLNA was added gene: FLNA was added to Pulmonary arterial hypertension. Sources: Literature Mode of inheritance for gene: FLNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNA were set to PMID: 30547349; PMID: 28457522 Phenotypes for gene: FLNA were set to Pulmonary hypertension; respiratory failure Review for gene: FLNA was set to GREEN gene: FLNA was marked as current diagnostic Added comment: Multiple papers report loss of function FLNA variants as a cause of neonatal/childhood pulmonary hypertension (see PMID: 30547349), GeneReviews FLNA deficiency page lists pulmonary findings including pulmonary hypertension in list of clinical features. Sources: Literature |
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