11p15 duplication and 13q34 deletion with <scp>B</scp>eckwith–<scp>W</scp>iedemann syndrome and factor <scp>VII</scp> deficiency
Dorota Jurkiewicz(Children's Memorial Health Institute), Małgorzata Krajewska‐Walasek(Children's Memorial Health Institute), Angelika Wawrzkiewicz‐Witkowska(Medical University of Silesia), Agata Cieślikowska(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Marzena Kucharczyk(Children's Memorial Health Institute), Monika Kugaudo(University Clinical Centre), Anna Tańska(Children's Memorial Health Institute), Agnieszka Tomaszewska(Medical University of Silesia)
Cited by 5
Related Papers
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
|Nature Reviews Endocrinology|2018|596
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
|Journal of the American Society of Nephrology|2015|284
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
|Nature Genetics|2012|244
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
|Journal of Translational Medicine|2016|233
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
|Genome Medicine|2022|215