Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome
ABD Ari, ÖA Şenel, BS Bilgin, E Kiliç - Clinical Dysmorphology, 2025 - journals.lww.com
Roberts phocomelia syndrome (RPS)(# 268300), is a rare genetic disorder characterized by
multiple congenital malformations with phocomelia that is caused by a biallelic pathogenic …
multiple congenital malformations with phocomelia that is caused by a biallelic pathogenic …
Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations
S He, S Chen, SJ Li, JW Zhang… - Molecular Genetics & …, 2023 - Wiley Online Library
Objective Roberts syndrome (RBS), also known as Roberts‐SC phocomelia syndrome, is a
rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene …
rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene …
A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome
AL Dulay, RJD Tan - Acta Medica Philippina, 2024 - pmc.ncbi.nlm.nih.gov
Childhood cataract is a common cause of visual impairment. Familial types are uncommon
among Filipinos. Furthermore, it is not common to have one that follows an autosomal …
among Filipinos. Furthermore, it is not common to have one that follows an autosomal …