Literature DB >> 1342871

Autosomal dominant transmission of acrodysostosis.

R D Steiner1, R A Pagon.   

Abstract

A mother and daughter with acrodysostosis are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of acrodysostosis. The daughter exhibited many features of acrodysostosis by two months of age, demonstrating that acrodysostosis may be diagnosed in infancy.

Entities:  

Mesh：

Year:  1992        PMID： 1342871

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


  4 in total

1.  Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.

Authors:  L C Wilson; M E Oude Luttikhuis; M Baraitser; H M Kingston; R C Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

2.  Exome sequencing identifies PDE4D mutations in acrodysostosis.

Authors:  Hane Lee; John M Graham; David L Rimoin; Ralph S Lachman; Pavel Krejci; Stuart W Tompson; Stanley F Nelson; Deborah Krakow; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2012-03-29       Impact factor: 11.025

3.  Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Authors:  Caroline Michot; Carine Le Goff; Edward Blair; Patricia Blanchet; Yline Capri; Brigitte Gilbert-Dussardier; Alice Goldenberg; Alex Henderson; Bertrand Isidor; Hulya Kayserili; Esther Kinning; Martine Le Merrer; Stanislas Lyonnet; Sylvie Odent; Pelin Ozlem Simsek-Kiper; Chloé Quelin; Ravi Savarirayan; Marleen Simon; Miranda Splitt; Judith M A Verhagen; Alain Verloes; Arnold Munnich; Geneviève Baujat; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2018-07-13       Impact factor: 4.246

4.  Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

Authors:  Harvy M Velasco; Ehsan Ullah; Angela M Martin; Robert B Hufnagel; Carlos E Prada
Journal:  Am J Med Genet A       Date:  2020-08-11       Impact factor: 2.578
  4 in total

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