Rüştü Fikret Akata

A Homozygous ALCAM–CBLB Deletion at 3q13.11‐q13.12 Defines a Candidate Novel Oculo‐Skeletal‐Immune Contiguous Gene Deletion Syndrome

ABSTRACT To our knowledge, we report the first combined homozygous deletion of ALCAM and CBLB at 3q13.11‐q13.12. The patient, a 14‐year‐old boy born to consanguineous parents, had a multisystem phenotype with severe congenital ocular and craniofacial anomalies, early‐onset osteop...