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Article

Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype.

European journal of human genetics : EJHG - 1 Feb 2023

Santoro Claudia, Boccia Rosa, Iovino Claudio, Piluso Giulio, Perrotta Silverio, Simonelli Francesca

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PMID: 36404348
DOI: 10.1038/s41431-022-01236-1
PMCID: PMC9905567

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