Project description:Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

| S-EPMC6871091 | biostudies-literature

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.

Project description: Not available

| S-EPMC6057978 | biostudies-literature

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

Project description: Not available

| S-EPMC4795212 | biostudies-literature

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Project description: Not available

| S-EPMC4592101 | biostudies-literature

Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).

Project description:Information on the hypothalamic pituitary ovarian axis in congenital disorders of glycosylation (CDG) females is scarce. Varying hormonal profiles and degrees of virilization in CDG females suggest a spectrum of yet unidentified mechanisms affected by impaired N-glycosylation. We describe an ALG6D woman who completed puberty with normal gonadotropins and testosterone levels, no virilization, and regular menses. Hormonal follow-up of CDG females is necessary to improve our understanding of the role of glycosylation in pubertal development.

| S-EPMC3869397 | biostudies-literature

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Project description:1. NAME OF THE DISEASE (SYNONYMS): Primary congenital glaucoma (PCG). Glaucoma, congenital (GLC). 2. OMIM# OF THE DISEASE: 231300- GLC3A. 600975- GLC3B. 613085- GLC3C. 613086- GLC3D. 617272- GLC3E. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: CYP1B1. LTBP2. MYOC. FOXC1. TEK. 4. OMIM# OF THE GENE(S): CYP1B1 MIM# 601771. LTBP2 MIM# 602091. MYOC MIM# 601652. FOXC1 MIM# 601090. TEK MIM# 600221. Review of the analytical and clinical validity, as well as of the clinical utility of DNA-based testing for variants in the CYP1B1, LTBP2 and MYOC gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.

| S-EPMC6189180 | biostudies-literature

Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies.

Project description: Not available

| S-EPMC4970691 | biostudies-literature