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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Authors :
Luciano Calzari
Sara Guzzetti
Silvia Russo
Daniela Melis
Frédéric Brioude
Deborah J G Mackay
Jet Bliek
Maria Paola Lombardi
Karen Temple
Angelo Selicorni
Claudia Izzi
Eamonn R. Maher
Irène Netchine
Thomas Eggermann
Human Genetics
ACS - Pulmonary hypertension & thrombosis
Amsterdam Reproduction & Development (AR&D)
University of Southampton
University of Amsterdam [Amsterdam] (UvA)
Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS)
Civic Hospital of Brescia
Università degli studi di Napoli Federico II
University of Cambridge [UK] (CAM)
NIHR Biomedical Research Centre [London]
Guy's and St Thomas' NHS Foundation Trust-King‘s College London
Sorbonne Université (SU)
Centre de Recherche Saint-Antoine (CR Saint-Antoine)
Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
CHU Trousseau [APHP]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Rheinisch-Westfälische Technische Hochschule Aachen (RWTH)
Source :
Genetical research, 101. Cambridge University Press, Genetics Research, Genetics Research, Cambridge University Press (CUP), 2019, 101 (e3), pp.1-5. ⟨10.1017/S001667231900003X⟩, Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X
Publication Year :
2019

Abstract

Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X<br />Published by Hindawi, London

Subjects

Subjects :
Beckwith-Wiedemann Syndrome
Beckwith–Wiedemann syndrome
Bioinformatics
Chromosomes
03 medical and health sciences
parasitic diseases
Genetics
medicine
Short Paper
Humans
Genetic Predisposition to Disease
Genetic Testing
Imprinting (psychology)
Medical diagnosis
Pair 11
030304 developmental biology
Genetic testing
Beckwith wiedemann
0303 health sciences
molecular testing
medicine.diagnostic_test
business.industry
Chromosomes, Human, Pair 11
Silver–Russell syndrome
030305 genetics & heredity
General Medicine
DNA Methylation
medicine.disease
unexpected results
3. Good health
Beckwith-Wiedemann syndrome
Silver-Russell syndrome
Phenotype
Silver-Russell Syndrome
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
DNA methylation
Anxiety
medicine.symptom
business
Human

Details

Language :
English
ISSN :
00166723 and 14695073
Database :
OpenAIRE
Journal :
Genetical research, 101. Cambridge University Press, Genetics Research, Genetics Research, Cambridge University Press (CUP), 2019, 101 (e3), pp.1-5. ⟨10.1017/S001667231900003X⟩, Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X
Accession number :
edsair.doi.dedup.....12e6e9691c2c46c1c6b65fa268d72665

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