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Human Mutation|March 29, 2000
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiencyY Zhang, K M Dipple, E Vilain, et al.
Birth Defects Original Article Series|January 1, 1990
Needs assessment for genetic services in TexasE R McCabe, P J Patterson, H Botsonis, et al.
The Journal of Clinical Investigation|January 1, 1989
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasiaE R McCabe, J Towbin, J Chamberlain, et al.
Nature|December 15, 1994
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenitaE Zanaria, F Muscatelli, B Bardoni, et al.
Pediatrics|November 10, 2000
Final report of the FOPE II Pediatric Subspecialists of the Future WorkgroupA Gruskin, R G Williams, E R McCabe, et al.
The Journal of Clinical Endocrinology and Metabolism|July 1, 1996
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismW Guo, T P Burris, Y H Zhang, et al.
American Journal of Diseases of Children (1960)|July 1, 1985
Infectious and bleeding complications in patients with glycogenosis IbD R Ambruso, E R McCabe, D Anderson, et al.
American Journal of Human Genetics|March 1, 1987
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletionsU Francke, J F Harper, B T Darras, et al.
American Journal of Medical Genetics|September 1, 1988
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndromeB A Burke, M R Wick, R King, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndromeD A Pillers, W K Seltzer, B R Powell, et al.
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