Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

Intragenic Deletions in FLNB 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 FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible for this condition. Here, we present two...

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Bibliographic Details
Main Authors: Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.
Format: Text
Language:English
Published: MDPI 2021
Subjects:
Case Report
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC8065484/
https://pubmed.ncbi.nlm.nih.gov/33916386
http://dx.doi.org/10.3390/genes12040528
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https://pmc.ncbi.nlm.nih.gov/articles/PMC8065484/
https://pubmed.ncbi.nlm.nih.gov/33916386
http://dx.doi.org/10.3390/genes12040528

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