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



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



Journal of Medical Genetics 33(11): 972-974



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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Accession: 008142361

Download citation: RISBibTeXText

PMID: 8950682

DOI: 10.1136/jmg.33.11.972


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