Literature DB >> 5773418

Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome.

T R Mereu, I H Porter, G Hug.   

Abstract

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Mesh：

Year:  1969        PMID： 5773418     DOI： 10.1001/archpedi.1969.02100030472016

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


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  4 in total

1.  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

2.  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

3.  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

Review 4.  Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions.

Authors:  Jerahme R Martinez; Akash Dhawan; Mary C Farach-Carson
Journal:  Genes (Basel)       Date:  2018-11-16       Impact factor: 4.096
  4 in total

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