Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter
Nicolas Gruchy(Laboratoire de Physique Corpusculaire de Caen), Marie‐France Portnoï(Inserm), Imen El Kamel(Sorbonne Université), Marie‐Line Jacquemont(Assistance Publique – Hôpitaux de Paris), Philippe Labrune(Université Paris-Sud), Jean‐Pierre Siffroi(Sorbonne Université), Stanislas Lyonnet(Hôpital Necker-Enfants Malades)
Cited by 24
Related Papers
In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene
|The American Journal of Human Genetics|2003|518
11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations
|The Journal of Clinical Endocrinology & Metabolism|2007|312
Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1
|The American Journal of Human Genetics|2010|247
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
|Nature Genetics|2011|244