Alopecia-mental retardation syndrome

Definition

Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental retardation. Three regions associated with APMR have been identified. Recently, a novel pathogenic, missense mutation in the AHSG has been revealed. AHSG maps within APMR linkage region 1 (APMR1) as reported before.

References:

[1]. M Reza Sailani, et al. Association of AHSG with alopecia and mental retardation (APMR) syndrome. Hum Genet. 2017 Mar;136(3):287-296. [Content Brief]

[2]. Thomas Besnard, et al. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. Genet Med. 2019 Sep;21(9):2025-2035. [Content Brief]

生物医学辞典

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