Investigating the role of a FAM111B mutation in hereditary fibrosing poikiloderma (POIKTMP) using induced pluripotent stem cell (iPSC) model

Investigating the role of a FAM111B mutation in hereditary fibrosing poikiloderma (POIKTMP) using induced pluripotent stem cell (iPSC) model

Hereditary fibrosing poikiloderma is an autosomal dominant disorder that is characterised by mottled pigmentation and telangiectasia, accompanied by tendon contractures, myopathy and pulmonary fibrosis (POIKTMP). Mutations in POIKTMP cases have been shown to harbour the Family with sequence similari...

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Bibliographic Details
Main Author: Gumede, Dimakatso B
Other Authors: Kidson, Sue H
Format: Doctoral Thesis
Language:English
Published: Faculty of Health Sciences 2020
Subjects:
medicine
Online Access:http://hdl.handle.net/11427/31070

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