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Line 13: \| MeshID = }} '''Lenz–Majewski syndrome''' is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, [[cutis laxa]], proximal symphalangism, syndactyly, brachydactyly, mental retardation, enamel hypoplasia, and hypertelorism.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN \|0-7216-2921-0}}.</ref>{{rp\|571}} In 2013, whole-exome sequencing showed that a [[missense mutation]] resulting in overactive phosphatidylserine synthase 1 was the cause of LMS, making it the first known human disease to be caused by disrupted phosphatidylserine metabolism. The researchers suggested a link between the condition and bone metabolism.<ref>http://www.nature.com/ng/journal/v46/n1/full/ng.2829.html</ref>

Lenz–Majewski syndrome: Difference between revisions