Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple cafe-au-lait macules

Children with neurofibromatosis type 1 (NF1) may exhibit an incomplete clinical presentation, making difficult to reach a clinical diagnosis. A phenotypic overlap may exist in children with other RASopathies or with other genetic conditions if only multiple café-au-lait macules (CALMs) are present....

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Veröffentlicht in:	CLINICAL GENETICS 2020-02, Vol.97 (2), p.264-275
Hauptverfasser:	Castellanos, Elisabeth, Rosas, Inma, Negro, Alex, Gel, Bernat, Alibes, Andreu, Baena, Neus, Pineda, Merce, Pi, Graciela, Pintos, Guillem, Salvador, Hector, Lazaro, Conxi, Blanco, Ignacio, Vilageliu, Lluisa, Brems, Hilde, Grinberg, Daniel, Legius, Eric, Serra, Eduard
Format:	Artikel
Sprache:	eng
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