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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मुख्य लेखकों:	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
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Oxford University Press 2023-06-01
श्रृंखला:	JBMR Plus
विषय:	NFIX kyphosis osteopenia brain abnormalities frameshift mutation
ऑनलाइन पहुंच:	https://doi.org/10.1002/jbm4.10739
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