MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that either the weight, height, or head circumference are above the 97th centile or 2 to 3 SD above the mean for age and sex. Additional features, such as facial dysmorphism, developmental delay or in...

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Veröffentlicht in:	Clinical genetics 2019-06, Vol.95 (6), p.726-731
Hauptverfasser:	Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Ramos, Feliciano J., Campistol, Jaume, Climent, Salvador, García‐Miñaur, Sixto, Dapía, Irene, Hernández, Alicia, Nevado, Julián, Solís, Mario, Ruiz‐Pérez, Víctor L., Lapunzina, Pablo
Format:	Artikel
Sprache:	eng
Schlagworte:	Bromodomain proteins BRWD3 Congenital defects epigenetic Genetic analysis Genetic counseling Genetic screening intellectual disability Macrocephaly Mutation overgrowth XMR93 syndrome X‐linked disorder
Online-Zugang:	Volltext
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