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Article

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

American journal of human genetics - 1 Jan 2010

Volpi Ludovica, Roversi Gaia, Colombo Elisa Adele, Leijsten Nico, Concolino Daniela, Calabria Andrea, Mencarelli Maria Antonietta, Fimiani Michele, Macciardi Fabio, Pfundt Rolph, Schoenmakers Eric F P M, Larizza Lidia

Abstract excerpt

Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions. Autozygosity mapping was performed on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poikiloderma with neutropenia (PN [MIM %604173]), a rare autosomal-recessive genodermatosis characterised by poikiloderma, pachyonychia, and chronic neutropenia. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20004881
DOI: 10.1016/j.ajhg.2009.11.014
PMCID: PMC2801743

Genes

RECQL4
SMAD4

Variants

Provenance

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Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.PMID 20004881Read ↗

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