HIGHLIGHTS
- who: Alya A. Al-Kurbi and collaborators from the College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar have published the article: A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes, in the Journal: Genes 2023, 14, 849. of /2023/
- what: The authors report the case of two-generation family where the index presented with syndrome while both the father and sister had clinical features of syndrome but without any point mutations detected by re-sequencing of known gene panels or microarray testing.
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