Literature DB >> 4830146

A bone dysplasia with deafness.

J Insley, R Astley.   

Abstract

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Year:  1974        PMID： 4830146     DOI： 10.1259/0007-1285-47-557-244

Source DB:  PubMed          Journal:  Br J Radiol        ISSN： 0007-1285            Impact factor:   3.039


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  4 in total

1.  A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Authors:  Yoshinari Miyamoto; Eiji Nakashima; Hisatada Hiraoka; Hirofumi Ohashi; Shiro Ikegawa
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

2.  Stickler's syndrome.

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

3.  Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Authors:  M Melkoniemi; H G Brunner; S Manouvrier; R Hennekam; A Superti-Furga; H Kääriäinen; R M Pauli; T van Essen; M L Warman; J Bonaventure; P Miny; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

4.  Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition.

Authors:  W H McAlister; J D Coe; M P Whyte
Journal:  Skeletal Radiol       Date:  1986       Impact factor: 2.199
  4 in total

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