Literature DB >> 2063933

Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III.

P Meinecke, E Schaefer, H R Wiedemann.   

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Year:  1991        PMID： 2063933     DOI： 10.1002/ajmg.1320390228

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  8 in total

1.  Cephalo-skeletal dysplasia and microcephalic osteodysplastic primordial dwarfism.

Authors:  H Taybi
Journal:  Pediatr Radiol       Date:  1992

2.  Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Authors:  R Nagy; H Wang; B Albrecht; D Wieczorek; G Gillessen-Kaesbach; E Haan; P Meinecke; A de la Chapelle; J A Westman
Journal:  Clin Genet       Date:  2011-08-28       Impact factor: 4.438

3.  Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.

Authors:  Hamdan Alrajhi; Jubara Alallah; Aiman Shawli; Khalid Alghamdi; Fahad Hakami
Journal:  BMJ Case Rep       Date:  2019-05-30

4.  Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Authors:  P Meinecke; E Passarge
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

5.  The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Authors:  Laura S Farach; Mary E Little; Angela L Duker; Clare V Logan; Andrew Jackson; Jaqueline T Hecht; Michael Bober
Journal:  Am J Med Genet A       Date:  2017-12-19       Impact factor: 2.802

6.  Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

Authors:  J Eason; C M Hall; J Q Trounce
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

7.  Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Authors:  Ivan Shelihan; Sophie Ehresmann; Cinzia Magnani; Francesca Forzano; Chiara Baldo; Nicola Brunetti-Pierri; Philippe M Campeau
Journal:  Hum Genet       Date:  2018-10-27       Impact factor: 4.132

Review 8.  Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Authors:  Michael B Bober; Andrew P Jackson
Journal:  Curr Osteoporos Rep       Date:  2017-04       Impact factor: 5.096
  8 in total

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