Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Marinesco–Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature2025
2. 2Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype2025
3. 3Mesoaxial synostotic syndactyly with phalangeal reduction caused by same homozygous BHLHA9 variant in a non-consanguineous Indian couple2026
4. 4Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family2026
5. 5Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome2024 · 2 citations