Literature DB >> 6502650

Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance.

J S Fitzsimmons, V Zaldua, A R Chrispin.   

Abstract

Entities:  

Mesh：

Year:  1984        PMID： 6502650      PMCID： PMC1049318          DOI： 10.1136/jmg.21.5.364

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


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  5 in total

1.  Diagnostic criteria for the whistling face syndrome.

Authors:  R M Antley; N Uga; N J Burzynski; R S Baum; D Bixler
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Cranio-carpo-tarsal dysplasia or the whistling face syndrome. II. Oral intercommissural distance in children.

Authors:  J Cervenka; P Figalová; R J Gorlin
Journal:  Am J Dis Child       Date:  1969-04

3.  Cranio-carpo-tarsal dysplasia. Report of a case in father and son.

Authors:  F C Fraser; H Pashayan; M E Kadish
Journal:  JAMA       Date:  1970-02-23       Impact factor: 56.272

4.  Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.

Authors:  A F Alves; E S Azevedo
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

Review 5.  The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

Authors:  J G Hall; S D Reed; G Greene
Journal:  Am J Med Genet       Date:  1982-02
  5 in total
  6 in total

Review 1.  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

Review 2.  Freeman-sheldon syndrome presenting with microstomia: a case report and literature review.

Authors:  Vivek Gurjar; Anita Parushetti; Minal Gurjar
Journal:  J Maxillofac Oral Surg       Date:  2012-05-17

3.  Severe skew foot deformity in a patient with freeman-sheldon syndrome.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  J Clin Med Res       Date:  2011-09-26

4.  Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Authors:  Xuefu Li; Bomeng Zhong; Weitian Han; Ning Zhao; Wei Liu; Yu Sui; Yawen Wang; Yongping Lu; Hong Wang; Jianxin Li; Miao Jiang
Journal:  PLoS One       Date:  2015-02-13       Impact factor: 3.240

5.  Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Authors:  A M Ali; R M Mbwasi; G Kinabo; E-J Kamsteeg; B C Hamel; M C J Dekker
Journal:  Case Rep Genet       Date:  2017-05-11

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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