Literature DB >> 5365059

Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle.

P R Huttenlocher, J Landwirth, V Hanson, B B Gallagher, K Bensch.   

Abstract

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Year:  1969        PMID： 5365059

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  7 in total

1.  Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Authors:  K A Brown; L I al-Gazali; L M Moynihan; N J Lench; A F Markham; R F Mueller
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Schwartz-Jampel syndrome in two daughters of first cousins.

Authors:  L Pavone; F Mollica; A Grasso; A Cao; F Gullotta
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-02       Impact factor: 10.154

3.  Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Authors:  L I Al-Gazali; M Varghese; E Varady; J Al Talabani; J Scorer; D Bakalinova
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

4.  Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.

Authors:  Katarzyna A Piróg; Michael D Briggs
Journal:  J Biomed Biotechnol       Date:  2010-05-24

5.  Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

Authors:  A Richieri-Costa; S M Garcia da Silva; O Frota-Pessoa
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

6.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

7.  Schwartz-Jampel syndrome.

Authors:  Sadanandavalli Retnaswami Chandra; Thomas Gregor Issac; N Gayathri; Sumanth Shivaram
Journal:  J Pediatr Neurosci       Date:  2015 Apr-Jun
  7 in total

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