Literature DB >> 7201239

Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.

F Majewski, M Stoeckenius, H Kemperdick.   

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Year:  1982        PMID: 7201239     DOI: 10.1002/ajmg.1320120105

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


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  21 in total

1.  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

2.  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

3.  Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.

Authors:  S Spranger; G Tariverdian; F K Albert; D Sontheimer; J Zöller; M Weber; J Tröger
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

4.  Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?

Authors:  Ralph Rahme; Louis Crevier; Josée Dubois; Claude Mercier
Journal:  Childs Nerv Syst       Date:  2010-07       Impact factor: 1.475

5.  Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Authors:  Tuba Dinçer; Gülden Yorgancıoğlu-Budak; Akgün Ölmez; İdris Er; Yavuz Dodurga; Özmert Ma Özdemir; Bayram Toraman; Adem Yıldırım; Nuran Sabir; Nurten A Akarsu; C Nur Semerci; Ersan Kalay
Journal:  Eur J Hum Genet       Date:  2017-08-23       Impact factor: 4.246

6.  Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.

Authors:  A Berger; N Haschke; C Kohlhauser; G Amman; U Unterberger; M Weninger
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

7.  A new syndrome with cerebro-oculo-skeletal-renal involvement.

Authors:  M C Silengo; M Lerone; A Pelizza; R Gatti; A Barabino; G Romeo
Journal:  Pediatr Radiol       Date:  1990

8.  Seckel syndrome: an overdiagnosed syndrome.

Authors:  E Thompson; M Pembrey
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

Review 9.  Primordial dwarfism: overview of clinical and genetic aspects.

Authors:  Preeti Khetarpal; Satrupa Das; Inusha Panigrahi; Anjana Munshi
Journal:  Mol Genet Genomics       Date:  2015-09-01       Impact factor: 3.291

10.  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

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