Literature DB >> 5706373

Freeman-Sheldon's syndrome, cranio-carpo-tarsal dystrophy.

A E Rintala.   

Abstract

Entities:  

Mesh：

Year:  1968        PMID： 5706373     DOI： 10.1111/j.1651-2227.1968.tb06979.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


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  9 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

2.  A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

Authors:  Miao Jiang; Xiuli Zhao; Weitian Han; Chaoying Bian; Xuefu Li; Ge Wang; Yang Ao; Yunqing Li; Dongxu Yi; Yang Zhe; Wilson H Y Lo; Xue Zhang; Jianxin Li
Journal:  Hum Genet       Date:  2006-06-27       Impact factor: 4.132

3.  [Freeman-Sheldon syndrome].

Authors:  O Barta; A Bellyei; J Kránicz
Journal:  Arch Orthop Unfallchir       Date:  1973

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

5.  A family with whistling-face-syndrome.

Authors:  A Wettstein; G Buchinger; A Braun; U B von Bazan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 6.  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

7.  Freeman-Sheldon syndrome with unusual hand and foot anomalies.

Authors:  R Estrada; W Rosenfeld; J D Salazar; R Jhaveri
Journal:  J Natl Med Assoc       Date:  1981       Impact factor: 1.798

8.  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

Review 9.  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
  9 in total

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