Clinical Genetics· 2026Q2
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
- 0citations
- Q2SCImago
- 2026year
Short summary
A homozygous splice-site variant in PIP5K1C caused lethal congenital contracture syndrome 3 (LCCS3) in a newborn, who also presented with hyperinsulinemic hypoglycemia and optic atrophy, expanding the known phenotype of this rare disorder.
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