Literature DB >> 1605263

Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome)

H Taybi.   

Abstract

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Year:  1992        PMID： 1605263     DOI： 10.1002/ajmg.1320430326

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


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  5 in total

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

Authors:  H Taybi
Journal:  Pediatr Radiol       Date:  1992

2.  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

3.  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

Review 4.  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

5.  Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl.

Authors:  Fadi Busaleh; Haider Alnofaily; Hussain A Al Ghadeer; Fatimah A Albahrani; Hibah A Alatiyyah; Salwa B Alshaikh; Ahmed M Alhamrani; Walaa Hassan; Jumanah Alatiya; Jawad Alnaqaa
Journal:  Cureus       Date:  2021-11-23
  5 in total

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