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A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.

Clinical dysmorphology - 1 Jan 2021

Meriç Rüya, Ercan-Sencicek Adife Gülhan, Uludağ Alkaya Dilek, Şahin Yasin, Sar Mehmet, Bilguvar Kaya, Tüysüz Beyhan

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Abnormalities, Multiple
Deafness
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Peripheral Nervous System Diseases

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PMID: 32969855
DOI: 10.1097/MCD.0000000000000350

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.PMID 32969855Read ↗

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