Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis
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The authors aimed to identify incontinentia pigmenti (IP) as a genetic cause of recurrent non-immune hydrops fetalis (NIHF) in three families, despite negative results from conventional genetic testing. They found that targeted molecular techniques, combined with detailed maternal phenotyping, revealed previously undetected IKBKG gene deletions associated with IP, emphasizing the need for improved prenatal testing strategies in the era of next-generation sequencing.
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