A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
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A. Rolfs | C. Beetz | L. Abbasi-Moheb | Nana-Maria Grüning | A. Westenberger | Z. Yüksel | O. Brandau | P. Bauer | P. Scott | A. Al-Kindi | M. Al-Shehhi