Sohn M; Ivanova P; Brown HA; Toth DJ; Várnai, Péter; Kim YJ; Balla T
(2016)
Lenz-Majewski syndrome (LMS) is a rare disease characterized by complex craniofacial, dental, cutaneous, and limb abnormalities combined with intellectual disability. Mutations in the PTDSS1 gene coding one of the ...