𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Elbow deformities in a patient with mandibuloacral dysplasia type A

✍ Scribed by Valeria Guglielmi; Monica D'Adamo; Maria Rosaria D'Apice; Alfonso Bellia; Davide Lauro; Massimo Federici; Renato Lauro; Giuseppe Novelli; Paolo Sbraccia

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
127 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mandibuloacral dysplasia type A in child
Mandibuloacral dysplasia type A in childhood
✍ L. Garavelli; M.R. D'Apice; F. Rivieri; M. Bertoli; A. Wischmeijer; C. Gelmini; πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 201 KB
Novel ANKH mutation in a patient with sp
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia
✍ Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A. Radecki; Sukwha Kim; Hako πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 311 KB πŸ‘ 2 views

## Abstract Craniometaphyseal dysplasia is caused by mutations in __ANKH__ (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified an