Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jul 2018

Long Xiaodan, Xiong Jing, Mo Zhaohui, Zhang Qin, Jin Ping

Abstract excerpt

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cafe-au-Lait Spots
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Neurofibromatosis 1

Share to Growth Hormone

Share to Mutation

Share to Neurofibromatosis 1

Source

Identifiers

PMID: 30124220
DOI: 10.11817/j.issn.1672-7347.2018.07.018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis].PMID 30124220Read ↗

[Several suggestions for improving diagnosis and management of patients with neurofibromatosis type 1].Semantic proximity Read ↗

[Progress and prospects in diagnosis and treatment of neurofibromatosis type 1].Semantic proximity Read ↗

[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].Semantic proximity Read ↗

Neurofibromatosis 1 in childhood.Semantic proximity Read ↗

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.Semantic proximity Read ↗

[Progress in diagnosis and treatment of neurofibromatosis in children].Semantic proximity Read ↗

[Genetics of type 1 neurofibromatosis].Semantic proximity Read ↗

A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.Semantic proximity Read ↗

Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report.Semantic proximity Read ↗

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.Semantic proximity Read ↗

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Semantic proximity Read ↗

NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.