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Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort

Background: Neurofibromatosis type 1 (NF1) is a unique, highly penetrant neuro-cutaneous disorder with a wide range of manifestations. Though the clinical diagnosis of NF1 is straight forward, there can be other disorders which mimic NF1, especially its cutaneous features. Here we describe the clini...

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Kaydedildi:
Asıl Yazarlar: Priyanka Srivastava, Shifali Gupta, Chitra Bamba, Roshan Daniel, Parminder Kaur, Anupriya Kaur, Inusha Panigrahi, Kausik Mandal
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2024-01-01
Seri Bilgileri:Heliyon
Konular:
Clinical manifestations
Mutation spectrum
Neurofibromatosis type 1
NF1 gene
Next generation sequencing
Online Erişim:http://www.sciencedirect.com/science/article/pii/S2405844023108930
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