FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function

Mutations in FLNA, which encodes the cytoskeletal protein FLNA, cause a spectrum of sclerosing skeletal dysplasias. Although many of these genetic variants are recurrent and cluster within the gene, the pathogenic mechanism that underpins the development of these skeletal phenotypes is unknown. To d...

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Bibliografske podrobnosti

Principais autores:	Emma M. Wade, Elizabeth A. Goodin, Yongqiang Wang, Tim Morgan, Karen E. Callon, Maureen Watson, Philip B. Daniel, Jillian Cornish, Christopher A. McCulloch, Stephen P. Robertson
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2023-06-01
Serija:	Bone Reports
Teme:	FLNA Otopalatodigital Spectrum Disorders Micro-CT Mouse model
Online dostop:	http://www.sciencedirect.com/science/article/pii/S2352187223000165
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