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1. Content Type:Research Article

     |  11 October 2018

   Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

   Authors:Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini and Amelia Morrone
2. Content Type:Case Report

     |  11 October 2018

   De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

   Authors:Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner and Ola H Skjeldal
3. Content Type:Technical Advance

     |  5 October 2018

   Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

   Authors:Bhavi P. Modi, Hardik I. Parikh, Maria E. Teves, Rewa Kulkarni, Jiang Liyu, Roberto Romero, Timothy P. York and Jerome F. Strauss III
4. Content Type:Research Article

     |  5 October 2018

   Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene

   Authors:Ming Gao, Bin Zhu, Zhe Xu, Shujun Liu, Jiajia Liu, Guojun Zhang, Yang Gao, Yubo Fan and Xixiong Kang
5. Content Type:Correspondence

     |  4 October 2018

   Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”

   Authors:Edina Poletto, Ursula Matte and Guilherme Baldo

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