Associated Papers
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly.
Donnelly M et al.
Prenatal Diagnosis, 2012
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