Literature DB >> 3172150

Pycnodysostosis.

K L Mills1, A W Johnston.   

Abstract

The first Scottish family with pycnodysostosis is reported. The clinical and radiological findings in the two affected men are recorded.

Entities:  

Mesh：

Year:  1988        PMID： 3172150      PMCID： PMC1080032          DOI： 10.1136/jmg.25.8.550

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Pycnodysostosis. A case report.

Authors:  M M Taylor; T M Moore; J P Harvey
Journal:  J Bone Joint Surg Am       Date:  1978-12       Impact factor: 5.284

2.  THE MALADY OF TOULOUSE-LAUTREC.

Authors:  P MAROTEAUX; M LAMY
Journal:  JAMA       Date:  1965-03-01       Impact factor: 56.272

3.  [Pyknodysostosis].

Authors:  P MAROTEAUX; M LAMY
Journal:  Presse Med       Date:  1962-04-25       Impact factor: 1.228

4.  Pycnodysostosis. Clinical and genetic considerations.

Authors:  H D Sedano; R J Gorlin; V E Anderson
Journal:  Am J Dis Child       Date:  1968-07
  4 in total
  3 in total

1.  Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

Authors:  Margarita Valdes-Flores; Alberto Hidalgo-Bravo; L Casas-Avila; Carmen Chima-Galan; Eric J Hazan-Lasri; Ernesto Pineda-Gomez; Druso Lopez-Estrada; Juan C Zenteno
Journal:  Int J Clin Exp Med       Date:  2014-11-15

2.  Cathepsin K Mutation-A Subtle Clinical Presentation.

Authors:  Venkata Sandeep Nandipati; Aaron Chapla; Felix K Jebasingh; Arun Paul Charlu; Thilak Samuel Jepegnanam; Kripa Elizabeth Cherian; Thomas V Paul; Nihal Thomas
Journal:  J Endocr Soc       Date:  2022-07-05

Review 3.  Osteomyelitis of the jaws in patients with pycnodysostosis: a systematic review.

Authors:  Glória Maria de França; Fernanda Aragão Felix; Everton Freitas de Morais; Maurília Raquel de Souto Medeiros; Ana Cláudia de Macedo Andrade; Hébel Cavalcanti Galvão
Journal:  Braz J Otorhinolaryngol       Date:  2021-01-29
  3 in total

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