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COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus
Author: Zhao, Xuliang; Sun, Weiwei; Cui, Zhihui; Yu, Min; Wang, Qi; Wang, Pengcheng; Tian, Ruixia
Journal: MOLECULAR SYNDROMOLOGY. 2023; Vol. 13, Issue 6, pp. 511-516. DOI: 10.1159/000525047
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Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing
Author: Yu, Qiu-Xia; Jing, Xiang-Yi; Li, Dong-Zhi
Journal: MOLECULAR SYNDROMOLOGY. 2023; Vol. 14, Issue 1, pp. 59-64. DOI: 10.1159/000526394
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Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior
Author: Younus, Muhammad; Rasheed, Memoona; Lin, Zhaohan; Asiri, Saeed A.; Almazni, Ibrahim A.; Alshehri, Mohammed Ali; Shafiq, Sarfraz; Iqbal, Imran; Khan, Amjad; Ullah, Hanif; Umair, Muhammad; Waqas, Ahmed
Journal: MOLECULAR SYNDROMOLOGY. 2023; Vol. 14, Issue 1, pp. 11-20. DOI: 10.1159/000526381
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A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency
Author: Duan, Ying; Xia, Yu; Gong, Zhuwen; Liu, Huili; Liang, Lili; Zhang, Kaichuang; Yang, Yi; Wang, Ruifang; Xiao, Bing; Qiu, Wenjuan
Journal: MOLECULAR SYNDROMOLOGY. 2023; Vol. 14, Issue 1, pp. 71-79. DOI: 10.1159/000526320
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Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing
Author: Chen, Yong-Shan; He, Jie-Fu; Quan, Tao; Li, Shu-Bin; Li, Dong-Zhi
Journal: MOLECULAR SYNDROMOLOGY. 2023; Vol. 13, Issue 6, pp. 522-526. DOI: 10.1159/000524501
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Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family
Author: Khan, Feroz; Arshad, Abida; Ullah, Asmat; Steenackers, Ellen; Mortier, Geert; Ahmad, Wasim; Arshad, Muhammad; Khan, Sarmir; Hayat, Amir; Khan, Ikram; Khan, Muhammad Asim; Van Hul, Wim
Journal: MOLECULAR SYNDROMOLOGY. 2023; Vol. , Issue , pp. -. DOI: 10.1159/000527043
