Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype

Reference

Takenouchi, Toshiki, et al. “Severe Congenital Lipodystrophy and a Progeroid Appearance: Mutation in the Penultimate Exon of FBN1 Causing a Recognizable Phenotype”. American Journal of Medical Genetics Part A, vol. 161, no. 12, July 2013, pp. 3057–3062, https://doi.org/10.1002/ajmg.a.36157.

PubMed Reference Number (PMID)

24039054