Literature DB >> 3856492

Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome.

D G Starr, J P McClure, J M Connor.   

Abstract

We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.

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Year:  1985        PMID： 3856492     DOI： 10.1111/j.1399-0004.1985.tb00192.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma.

Authors:  Bethlehem Gelaw; Said Ali; Joseph Becker
Journal:  Skeletal Radiol       Date:  2004-06-09       Impact factor: 2.199

2.  Osteogenic sarcoma and Rothmund Thomson syndrome.

Authors:  M Varughese; P Leavey; P Smith; R Sneath; F Breatnach; A O'Meara
Journal:  J Cancer Res Clin Oncol       Date:  1992       Impact factor: 4.553

3.  Case report 529: Osteosarcoma of calcaneus with Rothmund-Thompson syndrome (RTS).

Authors:  P R Baró; F M Bastart; J R Bartrina; J M Mateo; M T Vidal
Journal:  Skeletal Radiol       Date:  1989       Impact factor: 2.199

4.  Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

Authors:  B Kerr; G S Ashcroft; D Scott; M A Horan; M W Ferguson; D Donnai
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

5.  Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

Authors:  K L Ying; J Oizumi; C J Curry
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

Review 6.  Male fertility and skin diseases.

Authors:  M Badawy Abdel-Naser; Christos C Zouboulis
Journal:  Rev Endocr Metab Disord       Date:  2016-09       Impact factor: 9.306

7.  Regulation and localization of the Bloom syndrome protein in response to DNA damage.

Authors:  O Bischof; S H Kim; J Irving; S Beresten; N A Ellis; J Campisi
Journal:  J Cell Biol       Date:  2001-04-16       Impact factor: 10.539

Review 8.  Genetic alterations in syndromes with oral manifestations.

Authors:  Krishnamurthy Anuthama; Harikrishnan Prasad; Pratibha Ramani; Priya Premkumar; Anuja Natesan; Herald J Sherlin
Journal:  Dent Res J (Isfahan)       Date:  2013-11

Review 9.  The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Authors:  Meredith A Williams; Ariadne Letra
Journal:  Genes (Basel)       Date:  2018-05-16       Impact factor: 4.096
  9 in total

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