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Article

Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2017

Chang Ta C, Bauer Mislen, Puerta Herminia S, Greenberg Matthew B, Cavuoto Kara M

Abstract excerpt

Frank-ter Haar syndrome (FTHS) is an autosomal recessive disorder characterized by abnormalities that affect the development of bone, heart, and eyes. We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene: one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of...

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Identifiers

PMID: 29100834
DOI: 10.1016/j.jaapos.2017.07.216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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