New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report-Reference-Cited by-同舟云学术

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

Published:2019-07-16 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Aoyama Ken-ichi^ORCID,Kimura Minoru,Yamazaki Hiroshi,Uchibori Masahiro,Kojima Rena,Osawa Yuko,Hosomichi Kazuyoshi,Ota Yoshihide,Tanaka Masayuki,Yamada Shiro,Nishimura Gen

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-019-0858-z.pdf

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4. Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, et al. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet Med. 2018;20:1216–23.

5. Hassan TM, Marie-Noel W, LA E, HL B. Causes of congenital malformations. Birth Defects Res. 2018;110(2):87–91.

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