Article
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.
American journal of medical genetics. Part A - 1 Apr 2023
Créton Marijn, Wagener Frank, Massink Maarten, Fennis Willem, Bloemen Marjon, Schols Jan, Aarts Miranda, van der Molen Aebele Mink, van Haaften Gijs, van den Boogaard Marie José
Abstract excerpt
A girl with a unilateral cleft lip, alveolus and palate, tooth agenesis, and mild dysmorphic features, without a specific underlying syndrome diagnosis, was genotypically characterized and phenotypically described. Cleft gene panel analysis, single-nucleotide polymorphism (SNP) array, whole genome sequencing (WGS), whole exome sequencing, and quantitative PCR (Q-PCR) analysis were used as diagnostic tests. SNP...
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