Literature DB >> 501478

Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation.

R Calderon, N Gonzalez-Cantu.   

Abstract

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Year:  1979        PMID： 501478     DOI： 10.1016/s0022-3476(79)80298-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  4 in total

1.  Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.

Authors:  A Rebora; F Crovato
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

2.  Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Authors:  M Stefanini; P Lagomarsini; C F Arlett; S Marinoni; C Borrone; F Crovato; G Trevisan; G Cordone; F Nuzzo
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

3.  Familial benign copper deficiency.

Authors:  K Méhes; E Petrovicz
Journal:  Arch Dis Child       Date:  1982-09       Impact factor: 3.791

4.  Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

Authors:  A Fois; P Balestri; S Calvieri; M Zampetti; S Giustini; M Stefanini; P Lagomarsini
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183
  4 in total

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