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

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

The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall–Smith syndrome (MSS). NFIX mutations associated with MA...

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Bibliographic Details
Main Authors: Kreepa G. Kooblall, Mark Stevenson, Michelle Stewart, Lachlan Harris, Oressia Zalucki, Hannah Dewhurst, Natalie Butterfield, Houfu Leng, Tertius A. Hough, Da Ma, Bernard Siow, Paul Potter, Roger D. Cox, Stephen D.M. Brown, Nicole Horwood, Benjamin Wright, Helen Lockstone, David Buck, Tonia L. Vincent, Fadil M. Hannan, J.H. Duncan Bassett, Graham R. Williams, Kate E. Lines, Michael Piper, Sara Wells, Lydia Teboul, Raoul C. Hennekam, Rajesh V. Thakker
Format: Article
Language:English
Published: Oxford University Press 2023-06-01
Series:JBMR Plus
Subjects:
NFIX
kyphosis
osteopenia
brain abnormalities
frameshift mutation
Online Access:https://doi.org/10.1002/jbm4.10739

Internet

https://doi.org/10.1002/jbm4.10739

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