๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene

โœ Scribed by K. Fong; A. R. Rama Devi; J. E. Lai-Cheong; D. Chirla; S. K. Panda; L. Liu; I. Tosi; J. A. McGrath


Book ID
108697139
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
228 KB
Volume
37
Category
Article
ISSN
0307-6938

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Progeroid facial features and lipodystro
โœ Denise Horn; Peter N. Robinson ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 363 KB ๐Ÿ‘ 2 views

The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome. Mutation analysis of the fibrillin I (FBN1) gene revealed a novel heterozygous frameshift mutation at the 3' end in that patient. Here, we report o