Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Syndrome-Reference-Cited by-同舟云学术

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Syndrome

Published:2024 Issue: Volume: Page:1-5
ISSN:
Container-title:Genetic Syndromes
language:en
Short-container-title:

Author:

Ismail Aya Badeea,Ergoren Mahmut Cerkez

Publisher

Springer International Publishing

Link

https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1377-1

Reference15 articles.

1. Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA (1999) 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. Am J Med Genet 85(1):53–65

2. Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA (2000) Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet 67(6):1411–1421. https://doi.org/10.1086/316892

3. Francomano C (1996) A new skeletal dysplasia with severe tibial bowing, profound developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3). Am J Hum Genet 59:A25

4. González-Saldivar G, Rodríguez-Gutiérrez R, Treviño-Alvarez AM, Gómez-Flores M, Montes-Villarreal J, Álvarez-Villalobos NA, Elizondo-Plazas A, Salcido-Montenegro A, Ocampo-Candiani J, González-González JG (2018) Acanthosis nigricans in the knuckles: an early, accessible, straightforward, and sensitive clinical tool to predict insulin resistance. Dermatoendocrinol 10(1):e1471958. https://doi.org/10.1080/19381980.2018.1471958

5. Johnson DE, Williams LT (1993) Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 60:1–41. https://doi.org/10.1016/s0065-230x(08)60821-0