Cargando…

Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations

BACKGROUND: Rare syndromic skin disorders may represent a diagnostic challenge. AIMS: We report a unique case associating cutaneous manifestations and developmental delay. MATERIALS & METHODS: The affected 14 months old boy had poikiloderma, facial dysmorphism with deep‐set eyes, atrichia, as we...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zirn, B., Bernbeck, U., Alt, K., Oeffner, F., Gerhardinger, A., Has, C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060067/ https://www.ncbi.nlm.nih.gov/pubmed/35664819 http://dx.doi.org/10.1002/ski2.12

Ejemplares similares

Rothmund-Thomson syndrome
por: Larizza, Lidia, et al.
Publicado: (2010)

Rothmund-Thomson syndrome
por: Manavi, Sujaya, et al.
Publicado: (2014)

Oral Findings of Rothmund-Thomson Syndrome
por: Canger, Emin Murat, et al.
Publicado: (2013)

Histopathologic features of Rothmund-Thomson syndrome
por: Ahn, Ji Won, et al.
Publicado: (2019)

Rothmund-Thomson syndrome: Immuno-osseous challenges
por: Meyts, I, et al.
Publicado: (2011)

Human Papillomavirus-induced Cutaneous and Mucosal Lesions in a Patient with Rothmund-Thomson Syndrome
por: KUNTZ, Thomas, et al.
Publicado: (2020)

Leg ulcer in a patient with Rothmund–Thomson syndrome
por: Ciloglu, Sinem, et al.
Publicado: (2015)

Rothmund-Thomson Syndrome: A 13-Year Follow-Up
por: Guerrero-González, Guillermo Antonio, et al.
Publicado: (2014)

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings
por: Yang, Ji Young, et al.
Publicado: (2017)

Rothmund-Thomson syndrome, a disorder far from solved
por: Martins, Davi Jardim, et al.
Publicado: (2023)

Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund–Thomson syndrome
por: Yokoyama, Hideki, et al.
Publicado: (2019)

Ophthalmic manifestations in Rothmund–Thomson syndrome: Case report and review of literature
por: Chinmayee, J T, et al.
Publicado: (2017)

Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()()
por: Zhang, Xinyue, et al.
Publicado: (2020)

Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome
por: Beckmann, Nicholas
Publicado: (2015)

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome
por: van Rij, M. C., et al.
Publicado: (2016)

Senescence induced by RECQL4 dysfunction contributes to Rothmund–Thomson syndrome features in mice
por: Lu, H, et al.
Publicado: (2014)

Gastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson Syndrome
por: Nadeau, Kara, et al.
Publicado: (2018)

Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma
por: Gutiérrez-Jimeno, Miriam, et al.
Publicado: (2020)

Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
por: Suter, Aude‐Annick, et al.
Publicado: (2016)

Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome
por: De Oliveira, Katharina Morant Holanda, et al.
Publicado: (2016)

Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund–Thomson syndrome
por: Davis, Terence, et al.
Publicado: (2012)

Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
por: Ali, Zeeshan, et al.
Publicado: (2020)

De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants
por: Jiang, Chuanhe, et al.
Publicado: (2023)

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome
por: Colombo, Elisa A., et al.
Publicado: (2018)

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report
por: De Somer, Lien, et al.
Publicado: (2010)

Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome
por: Jewell, Brittany E., et al.
Publicado: (2021)

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
por: Walne, Amanda J., et al.
Publicado: (2010)

Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
por: Colombo, Elisa Adele, et al.
Publicado: (2023)

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
por: Ivarsdottir, Erna V., et al.
Publicado: (2019)

The Circular RNA Circ-ANAPC7 as a Biomarker for the Risk Stratification of Myelodysplastic Syndrome
por: Zhou, Fang, et al.
Publicado: (2022)

Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organ
por: Saito, Kan, et al.
Publicado: (2020)

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
por: Al Amrani, Fatema, et al.
Publicado: (2020)

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome
por: Jamuar, Saumya S., et al.
Publicado: (2017)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome
por: Pencovich, Niv, et al.
Publicado: (2012)

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
por: Coppieters, Frauke, et al.
Publicado: (2016)

Noonan syndrome‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish
por: Nakagama, Yu, et al.
Publicado: (2019)

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
por: Lekszas, Caroline, et al.
Publicado: (2020)

Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility
por: Li, You-Zhu, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_jhh8jt1bpinvkj2tqffa46aobh