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Article

Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy.

Cornea - 1 Nov 2012

Nakamura Hisashi, Li Frank T, Foltermann Miles O, Macsai Marian, Ma Xiaoping, Zhao Xinping C, Flaherty Kevin, Yee Richard W

Abstract excerpt

PURPOSE: To diagnose Thiel-Behnke dystrophy, an autosomal dominant disease of the anterior basement membrane/Bowman membrane complex and corneal stroma, currently relies primarily on the overall clinical presentation of patient complaints, inheritance pattern, and physical appearance of the corneal findings on slit-lamp examination. Key challenges to accurately identifying the disease are variable and often...

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PMID: 22965308
DOI: 10.1097/ICO.0b013e3181c32efd

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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