Familial trisomy 6p in mother and daughter-Reference-Cited by-同舟云学术

Familial trisomy 6p in mother and daughter

Published:2013-05-17 Issue:7 Volume:161 Page:1675-1681
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Savarese Marco,Grandone Anna¹,Perone Lucia²,Blanco Francesca Del Vecchio³,De Luca Giuseppina³,Di Fruscio Giuseppina³,Fogu Giuseppina⁴,Piluso Giulio³,Perrone Laura¹,del Giudice Emanuele Miraglia¹,Nigro Vincenzo

Affiliation:

1. Dipartimento di Pediatria “F. Fede”; Seconda Università degli Studi di Napoli; Napoli; Italy

2. Telethon Institute of Genetics and Medicine (TIGEM); Napoli; Italy

3. Dipartimento di Patologia Generale; Seconda Università degli Studi di Napoli; Napoli; Italy

4. Genetica Clinica, Dipartimento di Scienze Biomediche, Università di Sassari; Sassari; Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35928/fullpdf

Reference24 articles.

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2. Immunodeficiency in a child with partial trisomy 6p;Bart;Acta Paediatr,2011

3. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities;Castleman;Am J Hum Genet,2009

4. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome;Dauwerse;Nat Genet,2011

5. Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection;Delatycki;J Med Genet,1999

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3. Un caso de deleción parcial 1p36.1 y trisomía parcial 6p diagnosticadas por cariotipo;Revista Chilena de Pediatría;2016-09