Ontology highlight
ABSTRACT:
SUBMITTER: Cocciadiferro D
PROVIDER: S-EPMC7034684 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Cocciadiferro Dario D Agolini Emanuele E Digilio Maria Cristina MC Sinibaldi Lorenzo L Castori Marco M Silvestri Evelina E Dotta Andrea A Dallapiccola Bruno B Novelli Antonio A
Medicine 20200201 8
<h4>Introduction</h4>KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities.<h4>Patient concerns</h4>Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies.<h4>Diagnosis</h4>A custom NGS gene panel, including genes associated to skeletal ciliopathies, identified the homozygous KIAA0586 sp ...[more]