Literature DB >> 5800158

Two different mutations within the same sibship: thanatophoric dwarfism and ullrich-feichtiger syndrome.

M Huguenin, C Godard, P E Ferrier, F Bamatter.   

Abstract

Mesh：

Year:  1969        PMID： 5800158

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


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  5 in total

1.  Cerebral abnormalities in thanatophoric dysplasia.

Authors:  C L Coulter; R W Leech; R A Brumback; G B Schaefer
Journal:  Childs Nerv Syst       Date:  1991-02       Impact factor: 1.475

2.  The so-calle "Cloverleaf Skull Syndrome". A report of three cases with a discussion of its relationships with thanatophoric dwarfism and the craniostenoses.

Authors:  G Iannaccone; G Gerlini
Journal:  Pediatr Radiol       Date:  1974

3.  Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.

Authors:  M W Partington; F Gonzales-Crussi; S G Khakee; D G Wollin
Journal:  Arch Dis Child       Date:  1971-10       Impact factor: 3.791

4.  Neuropathologic findings in thanatophoric dysplasia.

Authors:  K L Ho; C H Chang; S S Yang; J L Chason
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

5.  Ventricular diverticula with localized dysgenesis of the temporal lobe in cloverleaf skull anomaly.

Authors:  A Hori; R L Friede; G Fischer
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088
  5 in total

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