Literature DB >> 12705373

Congenital hypothyroidism associated with Rubinstein-Taybi syndrome.

Selim Kurtoglu1, Mustafa Akcakus, Tamer Gunes, Neside Cetin, Naci Topaloglu.   

Abstract

Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and big toes, growth retardation, mental deficiency and dysmorphic facies. We report the association of Rubinstien-Taybi syndrome with congenital hypothyroidism.

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Year:  2003        PMID： 12705373     DOI： 10.1515/jpem.2003.16.3.457

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN： 0334-018X            Impact factor:   1.634


  3 in total

Review 1.  Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Authors:  Silvia Spena; Cristina Gervasini; Donatella Milani
Journal:  J Pediatr Genet       Date:  2015-09-28

2.  Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome.

Authors:  Mustafa Ali Akın; Tamer Güneş; Leyla Akın; Dilek Çoban; Sena Kara Oncu; Aslıhan Kiraz; Selim Kurtoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011-02-23

Review 3.  Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Authors:  Donatella Milani; Francesca Maria Paola Manzoni; Lidia Pezzani; Paola Ajmone; Cristina Gervasini; Francesca Menni; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2015-01-20       Impact factor: 2.638
  3 in total

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