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Article

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.

Human molecular genetics - 30 Sept 2020

Prasasya Rexxi, Grotheer Kristen V, Siracusa Linda D, Bartolomei Marisa S

Abstract excerpt

Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions on the paternal chromosome, whereas KOS most frequently arises from paternal UPD14 or epimutations/deletions on the maternal chromosome. In this review, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32592473
DOI: 10.1093/hmg/ddaa133
PMCID: PMC8325017

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