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

ABSTRACT Background Lenz‐Majewski syndrome (LMS) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous, and distal‐limb anomalies. Mutations in the PTDSS1 gene, which encodes one of the phosphatidylser...

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Bibliographic Details
Published in:Molecular Genetics & Genomic Medicine
Main Authors: Yasuko Kobari, Non Miyata, Jun Takayama, Naoya Saijo, Tomohisa Suzuki, Shigeo Kure, Atsuo Kikuchi, Gen Tamiya, Takumi Takizawa
Format: Article
Language:English
Published: Wiley 2025-06-01
Subjects:
congenital cutis laxa
Lenz‐Majewski syndrome
phenotypic spectrum
PTDSS1 gene
Online Access:https://doi.org/10.1002/mgg3.70112

Internet

https://doi.org/10.1002/mgg3.70112

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