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Article

EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.

Stem cell reports - 14 Mar 2017

Niethamer Terren K, Larson Andrew R, O'Neill Audrey K, Bershteyn Marina, Hsiao Edward C, Klein Ophir D, Pomerantz Jason H, Bush Jeffrey O

Abstract excerpt

Although human induced pluripotent stem cells (hiPSCs) hold great potential for the study of human diseases affecting disparate cell types, they have been underutilized in seeking mechanistic insights into the pathogenesis of congenital craniofacial disorders. Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by mutations in EFNB1 and characterized by craniofacial, skeletal, and neurological...

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Source

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Identifiers

PMID: 28238796
DOI: 10.1016/j.stemcr.2017.01.017
PMCID: PMC5355632

Genes

EFNB1

Provenance

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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