Literature DB >> 5551869

Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.

M Robinow, R A Pfeiffer, R J Gorlin, V A McKusick, A W Renuart, G F Johnson, R L Summitt.   

Abstract

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Year:  1971        PMID: 5551869

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


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  22 in total

1.  Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.

Authors:  L C Wilson; M E Oude Luttikhuis; M Baraitser; H M Kingston; R C Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

Review 2.  Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

Authors:  Giovanna Mantovani; Anna Spada; Francesca Marta Elli
Journal:  Nat Rev Endocrinol       Date:  2016-04-22       Impact factor: 43.330

3.  Brachydactylia with symphalangism, probably autosomal recessive.

Authors:  R Walbaum; C Hazard; R Cordier
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

4.  Peripheral dysplasia. Report of a new genetic syndrome.

Authors:  L Bacha; L Brachimi; K Kozlowski; R Massen; L Morris
Journal:  Pediatr Radiol       Date:  1989

5.  Acrodysostosis syndrome.

Authors:  R M Joshi; A L Pandya; B A Bharucha; R Ramakantan; N B Kumta
Journal:  Indian J Pediatr       Date:  1987 Mar-Apr       Impact factor: 1.967

6.  Autosomal dominant acrodysostosis.

Authors:  J M Cantú; A Hernández; A Panduro-Cerda; Z Nazará-Cazorla
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

7.  Acrodysostosis with 5 alpha reductase deficiency: an unusual association.

Authors:  G L Gupte; A S Kher; S P Kanade; B A Bharucha; S N Sagade
Journal:  Indian J Pediatr       Date:  1994 May-Jun       Impact factor: 1.967

8.  Maxillofacial dysostosis.

Authors:  V Escobar; J Eastman; D Weaver; M Melnick
Journal:  J Med Genet       Date:  1977-10       Impact factor: 6.318

Review 9.  Acrodysostosis syndromes.

Authors:  C Silve; C Le-Stunff; E Motte; Y Gunes; A Linglart; E Clauser
Journal:  Bonekey Rep       Date:  2012-11-21

10.  Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing.

Authors:  S Reiter
Journal:  Pediatr Radiol       Date:  1978-04-10
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