Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report-Reference-Cited by-同舟云学术

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Published:2019-01-14 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Alves Rita Maria,Uva Paolo,Veiga Marielza F.,Oppo Manuela,Zschaber Fabiana C. R.,Porcu Giampiero,Porto Henrique P.,Persico Ivana,Onano Stefano,Cuccuru Gianmauro,Atzeni Rossano,Vieira Lauro C. N.,Pires Marcos V. A.,Cucca Francesco,Toralles Maria Betânia P.,Angius Andrea^ORCID,Crisponi Laura

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-019-0745-7.pdf

Reference25 articles.

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