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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Detalles Bibliográficos
Autores principales: Qin, Si, Zhang, Yindi, Yu, Fadong, Ni, Yinxing, Zhong, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683535/
https://www.ncbi.nlm.nih.gov/pubmed/35633639
http://dx.doi.org/10.4274/jcrpe.galenos.2022.2021-12-24

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683535/
https://www.ncbi.nlm.nih.gov/pubmed/35633639
http://dx.doi.org/10.4274/jcrpe.galenos.2022.2021-12-24

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