✦ LIBER ✦

Follicular atrophoderma associated with skeletal defects, cataracts, and alopecia

✍ Scribed by Heidi K. Hwong; Alan T. Lewis; Sylvia Hsu

Publisher: Springer
Year: 2001
Tongue: English
Weight: 86 KB
Volume: 160
Category: Article
ISSN: 0340-6997
DOI: 10.1007/pl00008451

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

TBX2 gene duplication associated with co

TBX2 gene duplication associated with complex heart defect and skeletal malformations

✍ Francesca Clementina Radio; Laura Bernardini; Sara Loddo; Irene Bottillo; Antoni 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB

## Abstract We report on a patient with mild mental retardation, prenatal onset growth retardation, cerebellar hypoplasia, and complex heart defect including: interventricular septal defect, patent foramen ovale, aortic coarctation, tricuspid valve insufficiency, mitral valve stenosis, and minor sk

Congenital cataract, muscular hypotonia,

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

✍ R. Horváth; P. Freisinger; R. Rubio; T. Merl; R. Bax; J. A. Mayr; Shawan; J. Mül 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 255 KB

Insulin resistance in Type 2 (non-insuli

Insulin resistance in Type 2 (non-insulin-dependent) diabetic patients and their relatives is not associated with a defect in the expression of the insulin-responsive glucose transporter (GLUT-4) gene in human skeletal muscle

✍ J. Eriksson; L. Koranyi; R. Bourey; C. Schalin-Jäntti; E. Widén; M. Mueckler; A. 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 769 KB