Literature DB >> 4814886

Humero-spinal dysostosis with congenital heart disease.

K S Kozlowski, J M Celermajer, A R Tink.   

Abstract

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Year:  1974        PMID: 4814886     DOI: 10.1001/archpedi.1974.02110220105015

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


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  7 in total

Review 1.  Two brothers with heart defects and limb shortening: case reports and review.

Authors:  W Reardon; J Hurst; T I Farag; C Hall; M Baraitser
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Hereditary multiple exostoses.

Authors:  R C Hennekam
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

3.  Clinical profile in three cases of Fallot's tetralogy associated with costo-vertebral anomalies.

Authors:  K C Verma; T R Amla
Journal:  Indian J Pediatr       Date:  1976-03       Impact factor: 1.967

4.  Humero-spinal dysostosis.

Authors:  H Cortina; J Vidal; A Vallcanera; C Alberto; D Muro; F Dominguez
Journal:  Pediatr Radiol       Date:  1979-07-24

Review 5.  Recessive omodysplasia: five new cases and review of the literature.

Authors:  Nursel H Elçioglu; Karl H Gustavson; Andrew O M Wilkie; Memune Yüksel-Apak; Jürgen W Spranger
Journal:  Pediatr Radiol       Date:  2003-10-18

6.  Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Authors:  Pia Hermanns; Sheila Unger; Antonio Rossi; Antonio Perez-Aytes; Hector Cortina; Luisa Bonafé; Loredana Boccone; Valeria Setzu; Michel Dutoit; Luca Sangiorgi; Fabio Pecora; Kerstin Reicherter; Gen Nishimura; Jürgen Spranger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025

Review 7.  Skeletal Dysplasias Caused by Sulfation Defects.

Authors:  Chiara Paganini; Chiara Gramegna Tota; Andrea Superti-Furga; Antonio Rossi
Journal:  Int J Mol Sci       Date:  2020-04-14       Impact factor: 5.923

  7 in total

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