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ENPoikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP)
Alias:
Hereditary Sclerosing Poikiloderma with Tendon and Pulmonary Involvement
Poiktmp
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
Poiktmp Syndrome
Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome
Poikiloderma, Hereditary Fibrosing, Tendon Contractures, Myopathy, Pulmonary Fibrosis
Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosi
Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement
Hfp
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Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis, also known as hereditary sclerosing poikiloderma with tendon and pulmonary involvement, is related to dilution, pigmentary and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. An important gene associated with Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis is FAM111B (FAM111 Trypsin Like Peptidase B). Affiliated tissues include skin and pancreas, and related phenotypes are muscle weakness and delayed puberty
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