Literature DB >> 13520885

Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect.

D MARSHALL.   

Abstract

Entities:  

Keywords:  ECTODERMAL DYSPLASIA/manifestations; EYE/abnormalities; HEARING DISORDERS/heredity

Mesh：

Year:  1958        PMID： 13520885

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


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  20 in total

1.  Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors:  S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  Abnormal facies, myopia, and short stature.

Authors:  C G Keith; R H Dobbs; D G Shaw; K Cottrall
Journal:  Arch Dis Child       Date:  1972-10       Impact factor: 3.791

Review 3.  Inherited diseases of the inner ear in man in the light of studies on the mouse.

Authors:  M S Deol
Journal:  J Med Genet       Date:  1968-06       Impact factor: 6.318

4.  Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.

Authors:  R S Rapp; W E Hodgkin
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

5.  Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity.

Authors:  R J Gorlin; T Old; V E Anderson
Journal:  Z Kinderheilkd       Date:  1970

6.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

Review 7.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

8.  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

9.  Syndromes of genetic juvenile retinal detachment.

Authors:  R J Gorlin; W H Knobloch
Journal:  Z Kinderheilkd       Date:  1972

10.  Evaluation and management of pediatric rhegmatogenous retinal detachment.

Authors:  Adam S Wenick; David E Barañano
Journal:  Saudi J Ophthalmol       Date:  2012-05-24
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