Literature DB >> 5467037

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

F C Fraser, H Pashayan, M E Kadish.   

Abstract

Entities:  

Mesh：

Year:  1970        PMID： 5467037     DOI： 10.1001/jama.211.8.1374

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


× No keyword cloud information.
  10 in total

1.  Freeman-Sheldon syndrome: report of three cases and the anaesthetic implications.

Authors:  R S Laishley; W L Roy
Journal:  Can Anaesth Soc J       Date:  1986-05

2.  [Freeman-Sheldon syndrome].

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

3.  The whistling-face syndrome: report of a case with a renal anomaly.

Authors:  G Hashemi
Journal:  Indian J Pediatr       Date:  1973-01       Impact factor: 1.967

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.  Freeman-Sheldon (whistling face) syndrome in a Turner mosaic.

Authors:  M Bajaj; L Mehta
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

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

Authors:  J S Fitzsimmons; V Zaldua; A R Chrispin
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

7.  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 8.  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

9.  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

10.  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
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.