Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Pat...
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Patients with neurofibromatosis type 1 (NF1) and type 1 NF1 deletions often exhibit more severe clinical manifestations than patients with intragenic NF1 gene mutations, including facial dysmorphic features, overgrowth, severe global developmental delay, severe autistic symptoms and considerably reduced cognitive abilities, all of which are detecta...
Alternative Titles
Full title
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8535936
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8535936
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12101639
