A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome

Kooblall KG., Stevenson M., Stewart M., Harris L., Zalucki O., Dewhurst H., Butterfield N., Leng H., Hough TA., Ma D., Siow B., Potter P., Cox RD., Brown SDM., Horwood N., Wright B., Lockstone H., Buck D., Vincent TL., Hannan FM., Bassett JHD., Williams GR., Lines KE., Piper M., Wells S., Teboul L., Hennekam RC., Thakker RV.

DOI

10.1002/jbm4.10739

Type

Journal article

Journal

Jbmr plus

Publication Date

2023

Keywords

NFIX, kyphosis, osteopenia, brain abnormalities, frameshift mutation

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