Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome
- 1 January 1986
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 29 (1) , 92-93
- https://doi.org/10.1111/j.1399-0004.1986.tb00777.x
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletionClinical Genetics, 2008
- A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stuporThe Journal of Pediatrics, 1984
- Random X inactivation resulting in mosaic nullisomy of region Xp21.1→p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous diseaseCytogenetic and Genome Research, 1984
- Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibsClinical Genetics, 1983
- Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalitiesAnnals of Neurology, 1980