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Article

Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum.

American journal of medical genetics. Part A - 1 Mar 2022

Birnbaum Roee, Markovitch Ofer, Biron-Shental Tal, Kidron Debora, Ben-Sira Liat, Litz Philipsborn Shira, Reinstein Eyal

Abstract excerpt

Pathogenic variants in ZBTB18 gene have been described only postnatally with a variable phenotypic spectrum that includes intellectual disability, microcephaly, hypotonia, poor growth, corpus callosum abnormalities, seizures, and dysmorphic facial features. These features overlap with the phenotype of 1q43-q44 deletion syndrome (OMIM #612337). There are several genes within the 1q43-q44 deletion region, and...

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PMID: 34907638
DOI: 10.1002/ajmg.a.62599

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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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