Lenz–Majewski syndrome
Template:Infobox medical condition (new) Lenz–Majewski syndrome (LMS), also known as Lenz–Majewski hyperostotic dwarfism (LMHD), is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, proximal symphalangism, syndactyly, brachydactyly, intellectual disability, enamel hypoplasia and hypertelorism.[1]Template:Rp
Genetics
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.[2]
See also
References
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- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Template:ISBN.
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