Article
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Annals of human genetics - 1 Sept 2021
Muzammal Muhammad, Ahmad Safeer, Ali Muhammad Zeeshan, Khan Muzammil Ahmad
Abstract excerpt
Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive neuro-dermal disorder. It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe intellectual disability. So far, approximately 14 families (i.e., Iranian, Pakistani, and Swiss) with APMR have been reported in the scientific literature. Its precise prevalence...
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