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Yasuko Kobari

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Articles

A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

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By Non Miyata, Jun Takayama, Naoya Saijo, Yasuko Kobari
| Wiley Online Library Verified
1 Introduction Lenz-Majewski syndrome (LMS, OMIM:151050) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facial features, distinct craniofacial features, and unique craniofacial, dental, skin, and distal-limb anomalies. Mutations in the PTDSS1 gene (OMIM: 612792), encoding one of the phosphatidylserines (PS) synthase enzymes, PSS1, have been identified as causative in LMS patients.
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