A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Şimşek-Kiper, Pelin Özlem

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism. [electronic resource] - The Turkish journal of pediatrics - 80-4 p. digital

Publication Type: Case Reports; Journal Article

2791-6421


Abnormalities, Multiple--genetics
Child, Preschool
Craniofacial Abnormalities
Face--abnormalities
Facies
Female
Humans
Jacobsen Distal 11q Deletion Syndrome
Muscular Atrophy--genetics
Ophthalmoplegia--genetics
Psychomotor Disorders--genetics