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BMC Medical Genetics

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1. Content Type:Case Report

     |  25 July 2019

   Novel compound heterozygous mutations in OCA2gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

   Authors:Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu and Jing Wang
2. Content Type:Research Article

     |  24 July 2019

   Weak association between the interleukin-8 rs4073 polymorphism and acute pancreatitis: a cumulative meta-analysis

   Authors:Yening Li, Jing Bai, Bing He, Nan Wang, Haoran Wang and Dongliang Liu
3. Content Type:Technical Advance

     |  19 July 2019

   A multivariable approach for risk markers from pooled molecular data with only partial overlap

   Authors:Anne-Sophie Stelzer, Livia Maccioni, Aslihan Gerhold-Ay, Karin E. Smedby, Martin Schumacher, Alexandra Nieters and Harald Binder
4. Content Type:Case Report

     |  17 July 2019

   A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

   Authors:Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė
5. Content Type:Case Report

     |  16 July 2019

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

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