Literature DB >> 8922097

Boy with a ring 7 chromosome: a case report with special reference to dermatological findings.

J Wahlström1, R Bjarnason, I Rosdahl, K Albertsson-Wikland.   

Abstract

A ring chromosome 7 was found in an 8-year-old boy investigated on account of short stature and facial dysmorphism. He had a fair skin, almost white hair, cafe-au lait spots and many black atypical pigmented naevi. Electron microscopy of his skin revealed structural changes in melanocytes and keratinocytes, suggesting disturbed cell growth and differentiation.

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Year:  1996        PMID： 8922097     DOI： 10.1111/j.1651-2227.1996.tb18243.x

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0803-5253            Impact factor:   2.299


  3 in total

1.  Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.

Authors:  Li-Ping Tsai; Kuei-Fang Lee; Jye-Siung Fang; Ingrid Y Liu
Journal:  Mol Cytogenet       Date:  2011-02-08       Impact factor: 2.009

2.  Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome.

Authors:  Simon F Roy; Boris C Bastian; Sheilagh Maguiness; Alessio Giubellino; Swapna S Vemula; Timothy H McCalmont; Iwei Yeh
Journal:  Pigment Cell Melanoma Res       Date:  2021-03-17       Impact factor: 4.159

3.  Pathogenesis of vestibular schwannoma in ring chromosome 22.

Authors:  Ellen Denayer; Hilde Brems; Paul de Cock; Gareth D Evans; Frank Van Calenbergh; Naomi Bowers; Raf Sciot; Maria Debiec-Rychter; Joris V Vermeesch; Jean-Pierre Fryns; Eric Legius
Journal:  BMC Med Genet       Date:  2009-09-22       Impact factor: 2.103
  3 in total

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