Gene Frequency

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lianshu Han, Yongguo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu

Journal of Medical Genetics Jan 2024, 61 (1) 27-35; DOI: 10.1136/jmg-2022-108952
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
D Gareth Evans, George J Burghel, Miriam Jane Smith

Journal of Medical Genetics Sep 2023, 60 (9) 838-841; DOI: 10.1136/jmg-2022-108960
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente

Journal of Medical Genetics Sep 2023, 60 (9) 885-893; DOI: 10.1136/jmg-2022-108725

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