Literature DB >> 728552

Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs.

W G Wilson, A S Aylsworth, J D Folds, J K Whisnant.   

Abstract

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Mesh：

Year:  1978        PMID： 728552

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  7 in total

1.  Hand and foot abnormalities associated with genetic diseases.

Authors:  Henry J Mankin; Jesse Jupiter; Carol Ann Trahan
Journal:  Hand (N Y)       Date:  2010-10-26

Review 2.  Cartilage-hair hypoplasia.

Authors:  O Mäkitie; T Sulisalo; A de la Chapelle; I Kaitila
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

3.  Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.

Authors:  E Juvonen; O Mäkitie; A Mäkipernaa; T Ruutu; I Kaitila; J Rajantie
Journal:  Eur J Pediatr       Date:  1995-01       Impact factor: 3.183

4.  Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Authors:  O Mäkitie; I Kaitila
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

5.  Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Authors:  Luisa Bonafé; Emmanouil T Dermitzakis; Sheila Unger; Cheryl R Greenberg; Belinda A Campos-Xavier; Andreas Zankl; Catherine Ucla; Stylianos E Antonarakis; Andrea Superti-Furga; Alexandre Reymond
Journal:  PLoS Genet       Date:  2005-10       Impact factor: 5.917

6.  Effects on the immune system associated with living near a pesticide dump site.

Authors:  M F Vine; L Stein; K Weigle; J Schroeder; D Degnan; C K Tse; C Hanchette; L Backer
Journal:  Environ Health Perspect       Date:  2000-12       Impact factor: 9.031

7.  Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

Authors:  Patrick Riley; Dennis S Weiner; Bonnie Leighley; David Jonah; D Holmes Morton; Kevin A Strauss; Michael B Bober; Martin S Dicintio
Journal:  J Child Orthop       Date:  2015-03-13       Impact factor: 1.548
  7 in total

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