Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions
- 1 September 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 40 (3) , 260-263
- https://doi.org/10.1002/ajmg.1320400303
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.Proceedings of the National Academy of Sciences, 1989
- Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletionAmerican Journal of Medical Genetics, 1989
- Chondrodysplasia punctata with X;Y translocationHuman Genetics, 1988
- X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogeneClinical Genetics, 1988
- Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis.Proceedings of the National Academy of Sciences, 1987
- Deletions of the steroid sulphatase gene in ?classical? X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndromeHuman Genetics, 1987
- Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.Proceedings of the National Academy of Sciences, 1987
- Homologous expressed genes in the human sex chromosome pairing regionNature, 1985
- PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPsThe Lancet, 1985
- Abstracts of workshop presentations (Part 1 of 13)Cytogenetic and Genome Research, 1985