PMID: 8950682Nov 1, 1996Paper

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis

Journal of Medical Genetics
A D IrvineN C Nevin

Abstract

We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.

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Citations

Jun 23, 2009·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·W KrauseR Happle
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Jan 13, 2018·Endocrine·Pedro MarquesMárta Korbonits
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Nov 19, 2021·The Journal of Clinical Endocrinology and Metabolism·Pedro Marques, Márta Korbonits

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