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Article

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.

Journal of human genetics - 1 Jan 2020

Ohishi Akira, Masunaga Yohei, Iijima Shigeo, Yamoto Kaori, Kato Fumiko, Fukami Maki, Saitsu Hirotomo, Ogata Tsutomu

Abstract excerpt

Interstitial microdeletions at chromosome 19p13.3 are frequently associated with a constellation of clinical features including macrocephaly, characteristic face, intellectual disability, and sleep apnea. Previous studies in 25 patients with 19p13.3 microdeletions have revealed loss of MAP2K2 in 24 patients and that of PIAS4 and ZBTB7A in 23 patients, suggesting that these three adjacent genes are candidate genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31645653
DOI: 10.1038/s10038-019-0690-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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