Abstract Search

impe0096p43 | Diabetes and Insulin | IMPE2023

POC1A gene defect in two unrelated cases with severe dyslipidemic insulin resistance and SOFT syndrome

Esnaola Azcoiti María , Keselman Ana , Sanguineti Nora , Crespo Carolina , Krochik Gabriela , Costanzo Mariana , Scaglia Paula , Izquierdo Agustín , Tonietti Miriam , Verónica Aráoz Hilda , Pablo Gravina Luis , Braslavsky Débora , Casali Bárbara , Villegas Florencia , Correa Lourdes , Gabriela Obregón María , Arberas Claudia , Rey Rodolfo , Bergadá Ignacio , Noemí Alonso Cristina , Ropelato Gabriela

Introduction: SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome encompassing severe growth failure of prenatal onset, craniofacial dysmorphism, sparse hair, and digital abnormalities associated with biallelic pathogenic POC1Agene variants. Phenotypic spectrum has recently been expanded to include insulin resistance (IR) and muscle cramps.<p class="abst...

0 shares

IMPE Abstracts

POC1A gene defect in two unrelated cases with severe dyslipidemic insulin resistance and SOFT syndrome

BiosciAbstracts