𝔖 Bobbio Scriptorium
✦   LIBER   ✦

CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

✍ Scribed by Michael Weinstein; Els Schollen; Gert Matthijs; Christine Neupert; Thierry Hennet; Claudia E. Grubenmann; Christian G. Frank; Markus Aebi; Joe T. R. Clarke; Anne Griffiths; Lorne Seargeant; Nicola Poplawski


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
92 KB
Volume
136A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A novel splice site mutation in the TRIM
✍ P. Jagiello; C. Hammans; S. Wieczorek; L. Arning; A. Stefanski; H. Strehl; J.T. πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 321 KB

Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located i

Broad phenotypic variability in a single
✍ MichΓ¨le M. Sale; Jamie E. Craig; Jacinta C. Charlesworth; Liesel M. FitzGerald; πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 150 KB

The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from

Progeroid facial features and lipodystro
✍ Denise Horn; Peter N. Robinson πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 363 KB πŸ‘ 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

A novel splice-site mutation in the comm
✍ Samantha L. Ginn; Christine Smyth; Melanie Wong; Bruce Bennetts; Peter B. Rowe; πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 182 KB πŸ‘ 1 views

Mutations in the gene encoding the common gamma chain (Ξ³c) of interleukin receptors 2, 4, 7, 9, 15 and 21 result in X-linked severe combined immunodeficiency (SCID-X1). Classically, this disease is characterised by an absence of T and NK cells, and near normal numbers of functionally deficient B cel