Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.31966/fullpdf
Reference23 articles.
1. Long-term survival in typical thanatophoric dysplasia type 1
2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
3. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
4. Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
5. The new bone biology: Pathologic, molecular, and clinical correlates
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4. Growth Topics in FGFR3-Related Skeletal Dysplasias;Current Treatment Options in Pediatrics;2021-03-22
5. Acanthosis nigricans, hypochondroplasia, and FGFR 3 mutations: Findings with five new patients, and a review of the literature;Pediatric Dermatology;2019-02-14
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