Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums

Neurofibromatosis type 1 (NF1) is a common neurocutaneous disorder characterized by development of pigmentary skin changes, neurogenic tumors, and other manifestations involving multiple organ systems. Penetrance is complete, though expressivity is quite variable even among the family members. Given...

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Veröffentlicht in:American journal of medical genetics. Part A 2022-03, Vol.188 (3), p.911-918
Hauptverfasser: Muthusamy, Karthik, El‐Jabali, Aseel, Ongie, Laura J., Dhamija, Radhika, Babovic‐Vuksanovic, Dusica
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Sprache:eng
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