Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

The proximal 19p13.3 microdeletion/microduplication (prox19p13.3del/dup) syndrome is a recently described disorder with common clinical features including developmental delay, intellectual disability, speech delay, facial dysmorphic features with ear defects, anomalies of the hands and feet, umbilic...

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Veröffentlicht in:Clinical genetics 2020-03, Vol.97 (3), p.467-476
Hauptverfasser: Tenorio, Jair, Nevado, Julián, González‐Meneses, Antonio, Arias, Pedro, Dapía, Irene, Venegas‐Vega, Carlos A., Calvente, María, Hernández, Alicia, Landera, Leandro, Ramos, Sergio, Cigudosa, Juan Cruz, Pérez‐Jurado, Luis A., Lapunzina, Pablo
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Sprache:eng
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