A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, Christian Beetz, Patrick Scott, Oliver Brandau, Lia Abbasi-Moheb, Zafer Yüksel, Peter Bauer, Arndt Rolfs, Nana Maria Grüning^*

^*المؤلف المقابل لهذا العمل