Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules
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DOI: 10.1111/cge.13649
Abstract: 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… read more here.
Keywords: patients clinical; mutational spectrum; suspicion rasopathy; panel ... See more keywords