Literature DB >> 6966133

Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia.

L Regenbogen, V Godel.   

Abstract

Two brothers and their mother had vitreoretinal degeneration associated with cleft palate, a peculiar physiognomy, skeletal anomalies, and sensorineural deafness. The pattern of inheritance in this family suggested autosomal dominant transmission.

Entities:  

Mesh：

Year:  1980        PMID： 6966133     DOI： 10.1016/0002-9394(80)90013-6

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  4 in total

1.  Stickler's syndrome: a study of 12 families.

Authors:  A Spallone
Journal:  Br J Ophthalmol       Date:  1987-07       Impact factor: 4.638

2.  The Marshall and Stickler syndromes: objective rejection of lumping.

Authors:  S Aymé; M Preus
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

Review 3.  The Wagner-Stickler syndrome complex.

Authors:  V Godel; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1981-12-16       Impact factor: 2.379

4.  Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.

Authors:  A Ettl; S Felber; C Kunze; C Schmidauer; B Utermann; A Daxer; W Göttinger
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-06       Impact factor: 3.117
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.