Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes - Concepedia

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Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

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Citations

24

References

2007

Year

Yves Sznajer, H. Annika Siitonen, Gaia Roversi, Chantal Dangoisse, M. Scaillon, France Ziereisen, Sylvie Tenoutasse, Marjo Kestilä, Lidia Larizza

European Journal of Pediatrics

Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathologyRecql4 SyndromesRecql4 GeneAtypical Rothmund-thomson SyndromeDisease Gene IdentificationMolecular MedicineMedicineClinical Genetics

References

	Year	Citations

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