Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Samina YasinOuti MakitieSadaf Naz

Published in: BMC musculoskeletal disorders (2021)

Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

Keyphrases

copy number
genome wide
intellectual disability
case report
dna methylation
gene expression
autism spectrum disorder