Literature DB >> 2493379

A family with X-linked ichthyosis and hypogonadism.

M G Pike1, M Hammerton, J Edge, D J Atherton, D B Grant.   

Abstract

We describe the clinical, biochemical and ophthalmic findings in four closely related males with X-linked ichthyosis and hypogonadism. Recognition of this association is important for both paediatricians and paediatric dermatologists.

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Year:  1989        PMID： 2493379     DOI： 10.1007/bf00595908

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

1.  Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases.

Authors:  H T LYNCH; F OZER; C W MCNUTT; J E JOHNSON; N A JAMPOLSKY
Journal:  Am J Hum Genet       Date:  1960-12       Impact factor: 11.025

2.  Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.

Authors:  R S Wells; C B Kerr
Journal:  Br Med J       Date:  1966-04-16

3.  Lipoprotein electrophoresis in recessive X-linked ichthyosis.

Authors:  H H Ibsen; F Brandrup; O Blaabjerg; G Lykkesfeldt
Journal:  Acta Derm Venereol       Date:  1986       Impact factor: 4.437

4.  Carrier identification in steroid sulphatase deficiency and recessive X-linked ichthyosis.

Authors:  G Lykkesfeldt; A E Lykkesfeldt
Journal:  Acta Derm Venereol       Date:  1986       Impact factor: 4.437

5.  Ocular manifestations of ichthyosis.

Authors:  B Jay; R K Blach; R S Wells
Journal:  Br J Ophthalmol       Date:  1968-03       Impact factor: 4.638

6.  Steroid sulphatase deficiency disease.

Authors:  G Lykkesfeldt; H Høyer; H H Ibsen; F Brandrup
Journal:  Clin Genet       Date:  1985-09       Impact factor: 4.438

7.  Enzymatic basis of typical X-linked icthyosis.

Authors:  L J Shapiro; R Weiss; M M Buxman; J Vidgoff; R L Dimond; J A Roller; R S Wells
Journal:  Lancet       Date:  1978-10-07       Impact factor: 79.321

8.  X-linked recessive ichthyosis vulgaris: rapid identification by lipoprotein electrophoresis.

Authors:  H Traupe; P M Kövary; H Schriewer
Journal:  Arch Dermatol Res       Date:  1983       Impact factor: 3.017

9.  Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations.

Authors:  H H Ropers; B Migl; J Zimmer; M Fraccaro; P P Maraschio; A Westerveld
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.

Authors:  H Traupe; R Happle
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183
  10 in total
  3 in total

1.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

2.  A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.

Authors:  A Klink; A Meindl; H Hellebrand; G A Rappold
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

3.  Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Authors:  A Meindl; D Hosenfeld; W Brückl; S Schuffenhauer; J Jenderny; A Bacskulin; H C Oppermann; O Swensson; P Bouloux; T Meitinger
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318
  3 in total

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