Associated Papers
Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.
Gomes A et al.
American Journal of Medical Genetics. Part A, 2025
PPP1R12A mutation leads to different genders of twinning: a case report and literature review.
Tian H et al.
Translational Pediatrics, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
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