Literature DB >> 9843056

Another observation of Langer-type sponastrime dysplasia variant.

G Nishimura, M Mikawa, Y Fukushima.   

Abstract

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Year:  1998        PMID： 9843056

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  5 in total

1.  Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.

Authors:  Beyhan Tüysüz; Saliha Yılmaz; Tuğba Erener-Ercan; Kaya Bilguvar; Murat Günel
Journal:  Pediatr Radiol       Date:  2014-09-26

2.  Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Authors:  Lindsay C Burrage; John J Reynolds; Nissan Vida Baratang; Jennifer B Phillips; Jeremy Wegner; Ashley McFarquhar; Martin R Higgs; Audrey E Christiansen; Denise G Lanza; John R Seavitt; Mahim Jain; Xiaohui Li; David A Parry; Vandana Raman; David Chitayat; Ivan K Chinn; Alison A Bertuch; Lefkothea Karaviti; Alan E Schlesinger; Dawn Earl; Michael Bamshad; Ravi Savarirayan; Harsha Doddapaneni; Donna Muzny; Shalini N Jhangiani; Christine M Eng; Richard A Gibbs; Weimin Bi; Lisa Emrick; Jill A Rosenfeld; John Postlethwait; Monte Westerfield; Mary E Dickinson; Arthur L Beaudet; Emmanuelle Ranza; Celine Huber; Valérie Cormier-Daire; Wei Shen; Rong Mao; Jason D Heaney; Jordan S Orange; Débora Bertola; Guilherme L Yamamoto; Wagner A R Baratela; Merlin G Butler; Asim Ali; Mehdi Adeli; Daniel H Cohn; Deborah Krakow; Andrew P Jackson; Melissa Lees; Amaka C Offiah; Colleen M Carlston; John C Carey; Grant S Stewart; Carlos A Bacino; Philippe M Campeau; Brendan Lee
Journal:  Am J Hum Genet       Date:  2019-02-14       Impact factor: 11.025

3.  Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Authors:  Hae Ryung Chang; Sung Yoon Cho; Jae Hoon Lee; Eunkyung Lee; Jieun Seo; Hye Ran Lee; Denise P Cavalcanti; Outi Mäkitie; Helena Valta; Katta M Girisha; Chung Lee; Kausthubham Neethukrishna; Gandham S Bhavani; Anju Shukla; Sheela Nampoothiri; Shubha R Phadke; Mi Jung Park; Shiro Ikegawa; Zheng Wang; Martin R Higgs; Grant S Stewart; Eunyoung Jung; Myeong-Sok Lee; Jong Hoon Park; Eun A Lee; Hongtae Kim; Kyungjae Myung; Woosung Jeon; Kyoungyeul Lee; Dongsup Kim; Ok-Hwa Kim; Murim Choi; Han-Woong Lee; Yonghwan Kim; Tae-Joon Cho
Journal:  Am J Hum Genet       Date:  2019-02-14       Impact factor: 11.025

Review 4.  SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.

Authors:  H A Cooper; J Crowe; M G Butler
Journal:  Am J Med Genet       Date:  2000-05-01

5.  Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

Authors:  Je Hoon Jeong; A Leum Lee; Sung Yoon Cho; Dong Kyu Jin; Soo-Bin Im
Journal:  Medicine (Baltimore)       Date:  2016-05       Impact factor: 1.889
  5 in total

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