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

Abstract 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 a...

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Autores principales: Zhen Zhang, Xin Chen, Rui Zhou, Huaixiang Yin, Jiali Xu
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2020-05-01
Colección:BMC Pediatrics
Materias:
Neurofibromatosis type 1
Noonan syndrome
Deletion
Heterozygous
Case report
Acceso en línea:http://link.springer.com/article/10.1186/s12887-020-02102-z
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