Ontology highlight
ABSTRACT:
SUBMITTER: Ramachandrappa S
PROVIDER: S-EPMC5839025 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20180112 3
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHO ...[more]