Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
about
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
P2860
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
description
im März 2015 veröffentlichter wissenschaftlicher Artikel
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scientific article published on 26 March 2014
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wetenschappelijk artikel
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наукова стаття, опублікована в березні 2015
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name
Search for ReCQL4 mutations in ...... homson/Baller-Gerold syndromes
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Search for ReCQL4 mutations in ...... homson/Baller-Gerold syndromes
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type
label
Search for ReCQL4 mutations in ...... homson/Baller-Gerold syndromes
@en
Search for ReCQL4 mutations in ...... homson/Baller-Gerold syndromes
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prefLabel
Search for ReCQL4 mutations in ...... homson/Baller-Gerold syndromes
@en
Search for ReCQL4 mutations in ...... homson/Baller-Gerold syndromes
@nl
P2093
P2860
P50
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P1433
P1476
Search for ReCQL4 mutations in ...... homson/Baller-Gerold syndromes
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A Goldenberg
A Mégarbané
A Rodriguez
C Francannet
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P304
P356
10.1111/CGE.12361
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P577
2014-03-26T00:00:00Z