Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1
Frontometaphyseal dysplasia 1 (FMD1) is a rare otopalatodigital spectrum disorder (OPDSD) that is inherited as an X-linked trait and it is caused by gain-of-function mutations in the FLNA. It is characterized by generalized skeletal dysplasia, and craniofacial abnormalities including facial dysmorph...
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Main Authors: | Jaewon Kim (Author), Dong-Woo Lee (Author), Dae-Hyun Jang (Author) |
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Format: | Book |
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Frontiers Media S.A.,
2021-07-01T00:00:00Z.
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