Pan-cancer analysis identifies FAM111B as a biomarker for immune suppression microenvironment in low-grade gliomas.

Co-occurrence of two monogenic diseases within a single family.

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Photobiomodulation Therapy in Improving Quality of Life in Kindler Syndrome: A Case Study.

Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.

Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.

Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.

Pan-Cancer Analysis of the Tumorigenic Effect and Prognostic Diagnostic Value of FAM111B in Human Carcinomas.

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.

Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and Cancer.

A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.

[Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome].

Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.

Skin biopsy is helpful in the diagnosis of hereditary fibrosing POIKiloderma with tendon contractures, myopathy and pulmonary fibrosis, due to FAM111B mutation.

Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.

Inherited skin disorders presenting with poikiloderma.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B.

A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome.

Kindler Syndrome: A Multidisciplinary Management Approach.

FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.

Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report.

Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.

Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.

Mutations of FAM111B gene are not associated with Systemic Sclerosis.

[Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report].

A case of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) with the emphasis on cutaneous histopathological findings.

The Role of Genetic Testing in Hereditary Poikiloderma: A Case Report.

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

A case of familial calcific aortic and mitral stenosis in association with hereditary sclerosing poikiloderma.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).