TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype-Reference-Cited by-同舟云学术

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype

Published:2021-07 Issue:7 Volume:64 Page:104213
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Cenni Camille,Andres Stephanie,Hempel Maja,Strom Tim M.,Thomas Ellen,Davies Angela,Timoney Norma,Frigiola Alessandra,Logan Malcolm,Holder-Espinasse Muriel

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference20 articles.

1. Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications;Al-Qattan;Gene,2015

2. A de novo TBX3 mutation presenting as dorsalization of the little fingers: a forme fruste phenotype of Ulnar-Mammary syndrome;Al-Qattan;Eur. J. Med. Genet.,2020

3. Contiguous gene deletion of TBX5 and TBX3 leads to a variable phenotype with combined features of Holt-Oram and Ulnar-Mammary syndromes;Alby;Am. J. Med. Genet.,2013

4. Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome;Bamshad;Am. J. Med. Genet.,1996

5. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome;Bamshad;Nat. Genet.,1998

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