Literature DB >> 4810704

The whistling face syndrome--cranio-carpo-tarsal dysplasia. Report of a case and a survey of the literature.

P MacLeod, H Patriquin.   

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Year:  1974        PMID: 4810704     DOI: 10.1177/000992287401300213

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN: 0009-9228            Impact factor:   1.168


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  6 in total

1.  p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Authors:  Mohammad Al-Haggar; Soheir Yahia; Kristy Damjanovich; Nermin Ahmad; Iman Hamada; Pinar Bayrak-Toydemir
Journal:  Indian J Pediatr       Date:  2010-10-06       Impact factor: 1.967

Review 2.  Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment.

Authors:  Mikaela I Poling; Craig R Dufresne; Rodger J McCormick
Journal:  J Pediatr Genet       Date:  2020-05-07

3.  Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.

Authors:  Robert L Chamberlain; Mikaela I Poling; Augusto L Portillo; Andrés Morales; Rigoberto R T Ramirez; Rodger J McCormick
Journal:  BMJ Case Rep       Date:  2015-10-22

Review 4.  Freeman-Sheldon syndrome. A case report and review of the literature.

Authors:  Daniele Ferrari; Camilla Bettuzzi; Onofrio Donzelli
Journal:  Chir Organi Mov       Date:  2008-08-01

5.  Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

Authors:  J Vanĕk; J Janda; V Amblerová; F Losan
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

Review 6.  Freeman-Burian syndrome.

Authors:  Mikaela I Poling; Craig R Dufresne; Robert L Chamberlain
Journal:  Orphanet J Rare Dis       Date:  2019-01-10       Impact factor: 4.123

  6 in total

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