Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

Sotos syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth, macrocephaly, advanced bone age, variable degrees of mental retardation, and typical facial features. Defects of the NSD1 gene account for ⩾60% of cases of Sotos syndrome, whereas the disease-causing mechanism o...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2004
Témata:
Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181947/
https://ncbi.nlm.nih.gov/pubmed/14997421
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky