ea0065oc3.1 | Bone and Calcium | SFEBES2019
Kooblall Kreepa
, Stevenson Mark
, Stewart Michelle
, Szoke-Kovacs Zsombor
, Hough Tertius
, Leng Houfu
, Horwood Nicole
, Vincent Tonia
, Hennekam Raoul
, Potter Paul
, Cox Roger
, Brown Stephen
, Wells Sara
, Teboul Lydia
, Thakker Rajesh
Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 610 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...