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308100

None of those affected had obvious symptoms at birth, but developed scaling of the skin soon after or during the first year of life. The disorder was clinically indistinguishable from that of another patient with STS deficiency and hypogonadism. Molec. Thank you in advance for your generous support, Ada Hamosh, MD, MPH Scientific Director, OMIM Not Now Donate To OMIM!

Ross et al. (1985) described a family in which 4 brothers had X-linked ichthyosis, mental retardation, and short stature associated with nullisomy for Xpter-p22.3 resulting from an Xp to Yq translocation Derm. 113: 645-649, 1985. [PubMed: 3868422, related citations] 67. Arch. Shapiro, L. http://www.omim.org/308100

Buckle, V. Acad. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.

B., Wells, R. None of the cases had developed ichthyosis by the age of 6 months. T. VII(8): 46-49, 1971. 69.

Note: Alternate: Haut. Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome. Biochem J, 1971 Jan. http://www.ncbi.nlm.nih.gov/gene/308100 See Also: Andria et al. (1987); Ballabio et al. (1985); Ballabio et al. (1987); Cockayne (1933); Conary et al. (1987); DeUnamuno et al. (1977); Epstein and Bonifas (1985); Epstein et al.

NCBISkip to main contentSkip to navigationResourcesAll ResourcesChemicals & BioassaysBioSystemsPubChem BioAssayPubChem CompoundPubChem Structure SearchPubChem SubstanceAll Chemicals & Bioassays Resources...DNA & RNABLAST (Basic Local Alignment Search Tool)BLAST (Stand-alone)E-UtilitiesGenBankGenBank: BankItGenBank: SequinGenBank: tbl2asnGenome WorkbenchInfluenza VirusNucleotide Acad. Kubilus, J., Tarascio, A. Sci. 86: 10001-10005, 1989. [PubMed: 2602357, related citations] [Full Text] 6.

Genet. 58: 446, 1981. [PubMed: 6948769, related citations] 64. http://apps.leg.wa.gov/WAC/default.aspx?cite=308-100-210 E., Krentler, C., Cully, J., Hasilik, A., von Figura, K. Lykkesfeldt et al. (1983) reported 2 men with STS deficiency and testicular cancer. Testicular cancer occurred in 2 males with normally descended testes.

Hum. Invest. Population Genetics X-linked recessive ichthyosis occurs in about 1 in 6,000 males studied in various populations (Shapiro et al., 1978). Lancet 322: 1456 only, 1983.

Bellus - updated : 6/13/2000Victor A. The findings suggested that a high proportion of the mutations at the STS locus leading to enzyme deficiency are deletions, presumably generated by unequal cross-over events in female meiosis or by The trunk and extensor surfaces of the extremities were the most involved. Koppe, J.

Press (pub.) 1933. Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion. The authors concluded that X-linked ichthyosis results from a common mutation affecting steroid sulfatase activity.

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Clin. Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. (Letter) Clin. Frequent deletions at the steroid sulfatase (STS) locus. (Abstract) Am. C., De Groot, W.

PMID 16675724 Dual action of neutral sphingomyelinase on rat hepatocytes: activation of cholesteryl ester metabolism and biliary cholesterol secretion and inhibition of VLDL secretion. L. X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. McKusick - updated : 6/5/1997 Creation Date: Victor A.

M. P. M., Vidgoff, J., Dimond, R. A study of a pregnancy with low estrogen production due to placental sulfatase deficiency.

X-linked recessive ichthyosis: reinvestigation of a family first described in 1928. Gohlke, B. C., Marinkovic-Ilsen, A. Shapiro, L.

The certification must include the classification or endorsements of commercial motor vehicle that the employee or prospective employee is competent to operate.[Statutory Authority: RCW 46.01.110, 46.25.060, and 46.25.140. Obstet. Storage & Transportation Temp. -30 Deg.C Typical Packing Conditions Parameter Specification Condition Carton Type Boxed Trays Quantity Currently Available Stock for Samples 3182 Pricing for Sample Orders (GBP): Qty Break Unit Cytogenetics Complicated X-Linked Ichthyosis Due to Contiguous Gene Deletion Syndrome Metaxotou et al. (1983) described a 14-year-old boy with X-linked ichthyosis associated with nullisomy for the Xpter-p22 segment and a translocation

Derm. 102: 240-252, 1970. [PubMed: 4247927, related citations] [Full Text] 75. T., Shapiro, L. Am.