Literature DB >> 1034123

Tricho-rhino-phalangeal syndrome: report on three unrelated families.

Y Sugiura, M Shionoya, T Inoue, T Tsuruta.   

Abstract

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Year:  1976        PMID： 1034123

Source DB:  PubMed          Journal:  Jinrui Idengaku Zasshi        ISSN： 0021-5074


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  2 in total

1.  Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.

Authors:  K Naritomi; K Hirayama
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

2.  Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.

Authors:  Talat H Malik; Dietrich Von Stechow; Roderick T Bronson; Ramesh A Shivdasani
Journal:  Mol Cell Biol       Date:  2002-12       Impact factor: 4.272
  2 in total

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