Literature DB >> 35190466

Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.

Mackenzie A Michell-Robinson1, Stefanie Perrier1, Cassandra Lucia1, Luan T Tran1, Isabelle Thiffault1, Wolfgang Köhler1, Geneviève Bernard1.   

Abstract

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Year:  2022        PMID： 35190466      PMCID： PMC9052568          DOI： 10.1212/WNL.0000000000200228

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  2 in total

1.  Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.

Authors:  I Harting; S Karch; U Moog; A Seitz; P J W Pouwels; N I Wolf
Journal:  AJNR Am J Neuroradiol       Date:  2019-05-02       Impact factor: 3.825

2.  Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Authors:  William A Paznekas; Simeon A Boyadjiev; Robert E Shapiro; Otto Daniels; Bernd Wollnik; Catherine E Keegan; Jeffrey W Innis; Mary Beth Dinulos; Cathy Christian; Mark C Hannibal; Ethylin Wang Jabs
Journal:  Am J Hum Genet       Date:  2002-11-27       Impact factor: 11.025
  2 in total

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