Associated Papers
A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.
Melnik E et al.
Clinics and Practice, 2026
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Morel G et al.
Human Mutation, 2020
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