Open access

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

Mingrong Lv, Wangjie Liu, Wangfei Chi, Xiaoqing Ni, Jiajia Wang, Huiru Cheng, Wei-Yu Li, Shenmin Yang, Huan Wu, Junqiang Zhang, Yang Gao, Chunyu Liu, Caihua Li, Chenyu Yang, Qing Tan, Dongdong Tang, Jingjing Zhang, Bing Song, Yu-Jie Chen, Qiang Li, Yading Zhong, Zhihua Zhang, Hexige Saiyin, Li Jin, Yuping Xu, Ping Zhou, Zhaolian Wei, Chuanmao Zhang, Xiaojin He, Feng Zhang, Yunxia Cao

10.1136/jmedgenet-2019-106479

February 12, 2020

ATR-16 syndrome: mechanisms linking monosomy to phenotype

Christian Babbs, Jill Brown, Sharon W Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, Paul Ooijevaar, Marjolein Kriek, Amanda Dixon-McIver, Cornelis L Harteveld, Jan Traeger-Synodinos, Andrew O M Wilkie, Douglas R Higgs, Veronica J Buckle

10.1136/jmedgenet-2019-106528

January 31, 2020

Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

Alexandre Buffet, Bruna Calsina, Shahida Flores, Sophie Giraud, Marion Lenglet, Pauline Romanet, Elisa Deflorenne, Javier Aller, Isabelle Bourdeau, Brigitte Bressac-de Paillerets, María Calatayud, Caroline Dehais, Erwan De Mones Del Pujol, Atanaska Elenkova, Philippe Herman, Peter Kamenický, Sophie Lejeune, Jean Louis Sadoul, Anne Barlier, Stephane Richard, Judith Favier, Nelly Burnichon, Betty Gardie, Patricia L Dahia, Mercedes Robledo, Anne-Paule Gimenez-Roqueplo

10.1136/jmedgenet-2019-106519

January 29, 2020