A 26-year-old pregnant woman with mild gingival bleeding by J.Z. Zeng, Y. Dong, H.Y. Zhu, X. Xie, J.R. Liu, L. Li, Y.H. Zhai, Z. Cao

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Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy by Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin

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A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene by Jinhee Lee, Takuya Iwasaki, Tomoko Kaida, Hideki Chuman, Akiko Yoshimura, Yuji Okamoto, Hiroshi Takashima, Kazunori Miyata

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Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy by Hassan El Khatib, Bilal Asaad, Aisha Zaylaa, Farah Awad, Mariam Sbeity, Sirin Mneimneh, Georges Haber, Zeina Naja, Mariam Rajab

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Assessment of Glu504 Lys Genotype and Single Nucleotide Polymorphisms in Exon 12 and 13 of ALDH2 Gene in Alcoholic Liver Cirrhosis Patients in Northern Karnataka, India: A Cross-se... by Siddanagouda M Biradar, Y Sethu Reddy, Rudragouda S Bulagouda, Gurushantappa S Kadakol

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Characteristics and Clinical Implication of UGT1A1 Heterozygous Mutation in Tumor by Qian LI, Tao SUN, Hua ZHANG, Wei LIU, Yu XIAO, Hongqi SUN, Wencheng YIN, Yanhong YAO, Yangchun GU, Yan'e LIU, Fumei YI, Qiqi WANG, Jinyu YU, Baoshan CAO, Li LIANG

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A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family by Ping-Bo Ouyang, Yuan Zhao, Ying-Qian Peng, Lu-Si Zhang, Jian Cao, Yun Li

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Controversy between biopsy and risk in children with proteinuria: is there a paradigm war? by Jingyi Yang, Xiaorong Liu

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Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene by Shao Li, Dandan Shang, Yanjiao Du, Yan Li, Ruihua Liu

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Mutation analysis of the SERPING1 gene c.1396C>G in a family with hereditary angioedema by LUO Zhipeng, LI Changxing, ZENG Kang

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A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene by Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye

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Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome by Ziyu Ren, Jixiu Yi, Min Zhong, Yunting Wang, Qicong Liu, Xuan Wang, Dongfang Liu, Wei Ren

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Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report by Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Makoto Fujiwara, Hiroko Sato, Mahito Sato, Takuo Kubota, Keiichi Ozono, Junich Tamura

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First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations by Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa

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Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene by Magdalena Klaniewska, Maria Jedrzejowska, Malgorzata Rydzanicz, Justyna Paprocka, Mateusz Biela, Ewelina Wolanska, Agnieszka Pollak, Emilia Debek, Maria Sasiadek, Rafal Ploski, Monika Gos, Robert Smigiel

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Novel Compound Heterozygous Variations in <i>MPDZ</i> Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family by Shuang Zhang, Fangxia Zhang, Juan Wang, Shangying Yang, Yinghua Ren, Xue Rui, Xiaobo Xia, Xunlun Sheng

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Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report by Hua Li, Hua Yang, Min Li, Li Liang, Haojing Zhu, Anan Chen, Hairong Qian

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Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant by Ori Scott, Nigel Sharfe, Nigel Sharfe, Harjit Dadi, Harjit Dadi, Linda Vong, Linda Vong, Jenny Garkaby, Laura Abrego Fuentes, Jessica Willett Pachul, Sandra Nelles, Amit Nahum, Amit Nahum, Chaim M. Roifman, Chaim M. Roifman

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A case report: Gliosarcoma associated with a germline heterozygous mutation in MSH2 by Yuhan Wang, Zhiyuan Zhang

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Limited importance of the dominant-negative effect of <it>TP53 </it>missense mutations by Kordek Radzislaw, Jesionek-Kupnicka Dorota, Zawlik Izabela, Banaszczyk Mateusz, Hulas-Bigoszewska Krystyna, Bienkowski Michal, Piaskowski Sylwester, Szybka Malgorzata, Stoczynska-Fidelus Ewelina, Liberski Pawel P, Rieske Piotr

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