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

• Egile Nagusiak: Zhen Zhang (Egilea), Xin Chen (Egilea), Rui Zhou (Egilea), Huaixiang Yin (Egilea), Jiali Xu (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-05-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...