Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype-Reference-Cited by-同舟云学术

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

Published:2012-07-20 Issue:9 Volume:158A Page:2091-2099
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Allanson Judith,Smith Amanda,Hare Heather,Albrecht Beate,Bijlsma Emilia,Dallapiccola Bruno,Donti Emilio,Fitzpatrick David,Isidor Bertrand,Lachlan Katherine,Le Caignec Cedric,Prontera Paolo,Raas-Rothschild Annick,Rogaia Daniela,van Bon Bregje,Aradhya Swaroop,Crocker Susan F.,Jarinova Olga,McGowan-Jordan Jean,Boycott Kym,Bulman Dennis,Fagerberg Christina Ringmann

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35446/fullpdf

Reference12 articles.

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2. Nablus mask-like facial syndrome;Allanson;Am J Med Genet,2001

3. A second family with blepharo-naso-facial syndrome;Allanson;Clin Dysmorphol,2002

4. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH;Barber;Eur J Hum Genet,2008

5. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development;Benko;J Med Genet,2011

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