A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants
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DOI: 10.1111/cge.12967
Abstract: The semaphorins constitute a large family of secreted and membrane‐associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi‐allelic loss‐of‐function variants in SEMA3A (semaphorin 3A) were identified in… read more here.
Keywords: stature; short stature; type syndromic; loss function ... See more keywords