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Article

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

American journal of medical genetics. Part A - 1 Feb 2013

Czeschik Johanna Christina, Voigt Claudia, Goecke Timm O, Lüdecke Hermann-Josef, Wagner Nicholas, Kuechler Alma, Wieczorek Dagmar

Abstract excerpt

We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and coarse facial features. In both patients, pregnancy was...

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Source

Identifiers

PMID: 23307537
DOI: 10.1002/ajmg.a.35735

Genes

ABCC9

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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