A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report

Neurofibromatosis-Noonan syndrome (NFNS), a rare autosomal-dominant hereditary disease, is characterized by clinical manifestations of both neurofibromatosis type 1 (NF1) and NS. We present a case of NFNS with short stature caused by a heterozygous nonsense variant of the NF1 gene. A 12-year-old boy...

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Main Authors: Si Qin (Author), Yindi Zhang (Author), Fadong Yu (Author), Yinxing Ni (Author), Jian Zhong (Author)
Format: Book
Published: Galenos Yayincilik, 2023-12-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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