Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2010.09929.x/fullpdf
Reference12 articles.
1. Immune deficient poikiloderma: a new genodermatosis;Clericuzio;Am J Hum Genet,1991
2. Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene;Volpi;Am J Hum Genet,2010
3. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco;Mostefai;Am J Med Genet A,2008
4. Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents;Jin;Hum Genet,2008
5. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients;Wang;Am J Med Genet A,2003
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1. Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review;Frontiers in Genetics;2022-08-25
2. Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation;Pediatric Dermatology;2022-05-06
3. Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico;Boletín Médico del Hospital Infantil de México;2022-01-27
4. HPV‐5‐associated cutaneous squamous cell carcinoma in situ in poikiloderma with neutropenia;Clinical and Experimental Dermatology;2021-08-10
5. Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs;Frontiers in Medicine;2021-06-10
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