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
37154149 (PubMed )
Supplement: mmc2.pdf
Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.
Guo QH et al.
Journal of Cellular and Molecular Medicine, 2017
28707430 (PubMed )
Supplement: JCMM-21-3626-s003.xlsx › SNP
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