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Paper Details

Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.
Clin Dysmorphol
2
2020
1q43-q44 deletion, 1q43-q44 microdeletion, 1q43q44 chromosomal region, 1q43q44 microdeletion, AKT3, AKT3 gene, Haploinsufficiency of AKT3 gene, SDCCAG8, boy, cardiac atrial septal defect, chromosomal region, congenital abnormality of the corpus callosum, contiguous deleted genes, dysmorphic features, epilepsy, intellectual disability, microcephaly, neurodevelopmental delay, patient, psychomotor delay
Author NameAffiliation
Piergiorgio ModenaA.S.S.T. Lariana Sant'Anna Hospital
Angelo Selicorni
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Release 1.2