Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with twode novodeletions of HSA 4q32 and 4q34 involvingPDGFC,GRIA2, andFBXO8genes-Reference-Cited by-同舟云学术

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with twode novodeletions of HSA 4q32 and 4q34 involvingPDGFC,GRIA2, andFBXO8genes

Published:2013-08 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Calcia Alessandro¹,Gai Giorgia,Di Gregorio Eleonora,Talarico Flavia²,Naretto Valeria G.²,Migone Nicola,Pepe Ernesto³,Grosso Enrico²,Brusco Alfredo

Affiliation:

1. Department of Medical Sciences; University of Torino; Torino; Italy

2. S.C.d.U. Medical Genetics; A.O. Città della Salute e della Scienza; Torino; Italy

3. Dipartimento Chirurgia Generale e Specialistiche; A.O. Città della Salute e della Scienza; Torino; Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36146/fullpdf

Reference41 articles.

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3. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

4. The SCF ubiquitin ligase: Insights into a molecular machine;Cardozo;Nat Rev Mol Cell Biol,2004

5. A new syndrome of triphalangeal thumbs and brachy-ectrodactyly;Carnevale;Clin Genet,1980

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