Article
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
The Journal of clinical endocrinology and metabolism - 1 Jul 2018
Geoffron Sophie, Abi Habib Walid, Chantot-Bastaraud Sandra, Dubern Béatrice, Steunou Virginie, Azzi Salah, Afenjar Alexandra, Busa Tiffanny, Pinheiro Canton Ana, Chalouhi Christel, Dufourg Marie-Noëlle, Esteva Blandine, Fradin Mélanie, Geneviève David, Heide Solveig, Isidor Bertrand, Linglart Agnès, Morice Picard Fanny, Naud-Saudreau Catherine, Oliver Petit Isabelle, Philip Nicole, Pienkowski Catherine, Rio Marlène, Rossignol Sylvie, Tauber Maithé, Thevenon Julien, Vu-Hong Thuy-Ai, Harbison Madeleine D, Salem Jennifer, Brioude Frédéric, Netchine Irène, Giabicani Eloïse
Abstract excerpt
Context: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal and postnatal growth retardation, early feeding difficulties) and molecular overlap. Objective: To describe the clinical overlap between SRS and TS and extensively study the molecular aspects of TS. Patients:...
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