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Article

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.

Clinical genetics - 1 Jan 2021

Beheshtian Maryam, Akhtarkhavari Tara, Mehvari Sepideh, Mohseni Marzieh, Fattahi Zohreh, Abedini Seyedeh Sedigheh, Arzhangi Sanaz, Fadaee Mahsa, Jamali Payman, Najafipour Reza, Kalscheuer Vera M, Hu Hao, Ropers Hans-Hilger, Najmabadi Hossein, Kahrizi Kimia

Abstract excerpt

Mutations in adaptor protein complex-4 (AP-4) genes have first been identified in 2009, causing a phenotype termed as AP-4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype-phenotype correlation of the AP-4 deficiency syndrome, we add the data from 30 affected individuals...

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Identifiers

PMID: 32895917
DOI: 10.1111/cge.13845

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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