Literature DB >> 10457850

Occipital Horn syndrome in a 2-year-old boy.

A De Paepe1, B Loeys, K Devriendt, J P Fryns.   

Abstract

The clinical presentation of Occipital Horn syndrome, a rare X-linked recessive condition, in a 2-year-old boy is described. This is the youngest patient reported so far. The major clinical, pathophysiological and molecular aspects of this condition are summarized.

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Year:  1999        PMID: 10457850

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Authors:  Saiqa Yasmeen; Katrine Lund; Anne De Paepe; Sylvia De Bie; Arvid Heiberg; João Silva; Márcia Martins; Tina Skjørringe; Lisbeth B Møller
Journal:  Eur J Hum Genet       Date:  2013-09-04       Impact factor: 4.246

2.  Genomic organization of ATOX1, a human copper chaperone.

Authors:  Po-Ching Liu; David M Koeller; Stephen G Kaler
Journal:  BMC Genet       Date:  2003-02-05       Impact factor: 2.797

  2 in total

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