Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in <i>FLNB</i>, <i>MYH3</i>, and possibly in <i>RFLNA</i>, have been reported to...

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Bibliographic Details
Main Authors: Kaya Fukushima, Padmini Parthasarathy, Emma M. Wade, Tim Morgan, Kalpana Gowrishankar, David M. Markie, Stephen P. Robertson
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
filamin B
<i>FLNB</i>
spondylocarpotarsal synostosis syndrome
SCT
Online Access:https://www.mdpi.com/2073-4425/12/4/528

Internet

https://www.mdpi.com/2073-4425/12/4/528

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