Literature DB >> 15517832

Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.

H Van Esch, J E Fryns.   

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Year:  2004        PMID： 15517832

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


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  4 in total

Review 1.  Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.

Authors:  Edwin Li; Kalina Hristova
Journal:  Biochemistry       Date:  2006-05-23       Impact factor: 3.162

2.  Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Authors:  Christian Hafner; Johanna M M van Oers; Thomas Vogt; Michael Landthaler; Robert Stoehr; Hagen Blaszyk; Ferdinand Hofstaedter; Ellen C Zwarthoff; Arndt Hartmann
Journal:  J Clin Invest       Date:  2006-08       Impact factor: 14.808

Review 3.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

4.  Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Authors:  Manal Mustafa; Nabil Moghrabi; Bassam Bin-Abbas
Journal:  Case Rep Endocrinol       Date:  2014-11-19
  4 in total

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