Literature DB >> 11768397

Sponastrime dysplasia: presentation in infancy.

A C Offiah, M Lees, R M Winter, C M Hall.   

Abstract

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Year:  2001        PMID: 11768397      PMCID: PMC1734792          DOI: 10.1136/jmg.38.12.889

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


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  4 in total

1.  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

2.  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 3.  Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

Authors:  Karen W Gripp; Caitlyn Johnson; Charles I Scott; Linda Nicholson; Michael Bober; Merlin G Butler; Linda Shaw; Robert J Gorlin
Journal:  Am J Med Genet A       Date:  2008-02-15       Impact factor: 2.802

4.  A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

Authors:  Ok-Hwa Kim; Tae-Joon Cho; Hae-Ryong Song; Chin Youb Chung; Shin-Ichiro Miyagawa; Gen Nishimura; Andrea Superti-Furga; Sheila Unger
Journal:  Skeletal Radiol       Date:  2009-03-11       Impact factor: 2.199

  4 in total

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