A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome

A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome

Abstract Background Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosing disease. To date, a total of 36 cases are documented, with eleven...

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Bibliographic Details
Main Authors: Afolake Arowolo, Cenza Rhoda, Mzwandile Mbele, Oluwafemi G. Oluwole, Nonhlanhla Khumalo
Format: Article
Language:English
Published: SpringerOpen 2022-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Poikiloderma
PCR–RFLP
Mutations
Molecular diagnosis
Rare disorder
Online Access:https://doi.org/10.1186/s43042-022-00380-z

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