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Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report

BACKGROUND: Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy. CASE PRESENTATION: A 15-month-old boy was admitted for motor and lang...

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Detalles Bibliográficos
Autores principales: Zhang, Zhen, Chen, Xin, Zhou, Rui, Yin, Huaixiang, Xu, Jiali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193357/
https://www.ncbi.nlm.nih.gov/pubmed/32357851
http://dx.doi.org/10.1186/s12887-020-02102-z