Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II by Jing Wang, Yu Lu, Xiaohong Yan, Tian Shen, Linke Li, Yufang Rao, Bo Tan, Wenyu Xiong, Jing Cheng, Yu Zhao, Huijun Yuan

Subjects: “…incomplete penetrance…”
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Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death by Monica Coll, Alexandra Pérez-Serra, Jesus Mates, Bernat del Olmo, Marta Puigmulé, Anna Fernandez-Falgueras, Anna Iglesias, Ferran Picó, Laura Lopez, Ramon Brugada, Oscar Campuzano

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Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome by Shao-Yu Chang, Naotomo Kambe, Wen-Lang Fan, Jing-Long Huang, Wen-I Lee, Chao-Yi Wu

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TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree by Sadegh Rajabi, Romina Dastmalchi, Mohammad Hossein Dehghan, Ali Eftekharian, Elmira Aghazadeh, Sayyed Mohammad Hossein Ghaderian

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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles by Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton

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Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes by Marzia De Bortoli, Viviana Meraviglia, Katarina Mackova, Laura S. Frommelt, Eva König, Johannes Rainer, Chiara Volani, Patrizia Benzoni, Maja Schlittler, Giada Cattelan, Benedetta M. Motta, Claudia Volpato, Werner Rauhe, Andrea Barbuti, Serena Zacchigna, Peter P. Pramstaller, Alessandra Rossini

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Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant by Eliete Pardono, Juliana F. Mazzeu, Karina Lezirovitz, Maria Teresa B.M. Auricchio, Paula Iughetti, Rafaella M.P. Nascimento, Regina C. Mingroni-Netto, Paulo A. Otto

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An epistatic explanation by Yoshihiro Komatsu, Yuji Mishina

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Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode by Peng Chen, Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang

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Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2 by Jing Wang, Chunyan Wang, Chunyan Wang, Haiyang Xie, Xiaoyuan Feng, Lei Wei, Binbin Wang, Binbin Wang, Tengyan Li, Mingan Pi, Li Gong

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Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers by Angelica Bianco, Alessio Valletti, Giovanna Longo, Luigi Bisceglia, Julio Montoya, Sonia Emperador, Silvana Guerriero, Vittoria Petruzzella

Subjects: “…Incomplete penetrance…”
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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree by Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini

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Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience by Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T

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An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations by Sonia eEmperador, Sonia eEmperador, Sonia eEmperador, David ePacheu-Grau, M. Pilar eBayona-Bafaluy, Nuria eGarrido-Pérez, Antonio eMartín-Navarro, Manuel José López-Pérez, Manuel José López-Pérez, Manuel José López-Pérez, Julio eMontoya, Julio eMontoya, Julio eMontoya, Eduardo eRuiz-Pesini, Eduardo eRuiz-Pesini, Eduardo eRuiz-Pesini, Eduardo eRuiz-Pesini

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Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease by Li Gong, Chunyan Wang, Haiyang Xie, Jun Gao, Tengyan Li, Shenggui Qi, Binbin Wang, Jing Wang

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A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report by Armando Perrotta, Stefano Gambardella, Anna Ambrosini, Maria Grazia Anastasio, Veronica Albano, Francesco Fornai, Francesco Fornai, Francesco Pierelli, Francesco Pierelli

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Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease by Rosangela Ferese, Simona Scala, Francesca Biagioni, Emiliano Giardina, Emiliano Giardina, Stefania Zampatti, Stefania Zampatti, Nicola Modugno, Claudio Colonnese, Claudio Colonnese, Marianna Storto, Francesco Fornai, Francesco Fornai, Giuseppe Novelli, Giuseppe Novelli, Stefano Ruggieri, Stefano Gambardella

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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report by Cristina Grippaudo, Concetta Cafiero, Isabella D’Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers

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Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Var... by Rossella Piras, Paraskevas Iatropoulos, Elena Bresin, Marta Todeschini, Sara Gastoldi, Elisabetta Valoti, Marta Alberti, Caterina Mele, Miriam Galbusera, Paola Cuccarolo, Ariela Benigni, Giuseppe Remuzzi, Marina Noris

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Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria by Elena Di Pierro, Miriana Perrone, Milena Franco, Francesca Granata, Lorena Duca, Debora Lattuada, Giacomo De Luca, Giovanna Graziadei

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