## Abstract Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human __ALG6__ (h__ALG6__). This gene encodes the Ξ±1,3βglucosyltransferase that catalyzes transfer of the first glucose residue to the lipidβlinked oligosaccharide precursor
Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature
β Scribed by M. Di Rocco; T. Hennet; C. E. Grubenmann; S. Pagliardini; A. E. M. Allegri; C. G. Frank; M. Aebi; S. Vignola; J. Jaeken
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 79 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0141-8955
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## Abstract In this report, we describe a brother and sister who presented at birth with shortβlimb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists,
The lacrimal system is comprised of the lacrimal glands for tear production and the lacrimal drainage system for draining tears away from the eyes. Congenital lacrimal system anomalies other than nasolacrimal duct obstruction are uncommon. Congenital lacrimal fistulae are a rare developmental anomal