Article

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

2019-03-11

Abstract excerpt

<h4>Background: </h4> Lenz-Majewski syndrome (LMS) is characterized by osteosclerosis and hyperostosis of skull, vertebrae and tubular bones as well as craniofacial, dental, cutaneous, and digit abnormalities. We previously found that LMS is caused by de novo dominant missense mutations in the PTDSS1 gene, which encodes phosphatidylserine synthase 1 (PSS1), an enzyme that catalyses the conversion of phosphatid...

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Literature Corpus work: 9d8c6aa9-949a-5468-881f-9ff8fb30435a
DOI: 10.12688/f1000research.17314.1

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