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Article

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia.

American journal of medical genetics. Part A - 1 Nov 2007

Aldave Anthony J, Yellore Vivek S, Yu Fei, Bourla Nirit, Sonmez Baris, Salem Andrew K, Rayner Sylvia A, Sampat Kapil M, Krafchak Charles M, Richards Julia E

Abstract excerpt

Mutations in the two-handed zinc-finger homeodomain transcription factor gene (TCF8) have been associated with posterior polymorphous corneal dystrophy (PPCD) and extraocular developmental abnormalities. We performed screening of TCF8 in 32 affected, unrelated probands, affected and unaffected family members of probands identified with a TCF8 mutation, and in 100 control individuals. Eight different pathogenic...

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PMID: 17935237
DOI: 10.1002/ajmg.a.31978

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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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