PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Pediatrics10.3345/kjp.2017.60.3.94201760394A compound heterozygous mutation in theFMO3gene: the first pediatric case causes fish odor syndrome in KoreaJi Hyun Kim, Sung Min Cho, Jong-Hee Chaehttps://synapse.koreamed.org/pdf/10.3345/kjp.2017.60.3.94, https://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2017.60.3.94, http://kjp.or.kr/upload/pdf/kjped-60-94.pdf
10.21203/rs.3.rs-38184/v12020A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G>A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case ReportReyida Aishajiang, Cheng Li, Bo-Tao Shen, Jian Sun, Wei Zhaohttps://www.researchsquare.com/article/rs-38184/v1, https://www.researchsquare.com/article/rs-38184/v1.html
Pediatric Nephrology10.1007/s00467-005-2091-62005212190-193A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IVSachiko Kitanaka, Utako Sato, Kenichi Maruyama, Takashi Igarashihttp://link.springer.com/content/pdf/10.1007/s00467-005-2091-6.pdf, http://link.springer.com/article/10.1007/s00467-005-2091-6/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00467-005-2091-6
Journal of Medical Case Reports10.1186/1752-1947-8-328201481Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case reportRosalia D’Angelo, Concetta Scimone, Teresa Esposito, Daniele Bruschetta, Carmela Rinaldi, Alessia Ruggeri, Antonina Sidotihttp://link.springer.com/content/pdf/10.1186/1752-1947-8-328.pdf, http://link.springer.com/article/10.1186/1752-1947-8-328/fulltext.html, http://link.springer.com/content/pdf/10.1186/1752-1947-8-328, https://link.springer.com/content/pdf/10.1186/1752-1947-8-328.pdf
International Journal of Pediatric Otorhinolaryngology10.1016/j.ijporl.2012.07.035201276111633-1636Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndromeKaitian Chen, Wei Zhou, Ling Zong, Min Liu, Jintao Du, Hongyan Jianghttps://api.elsevier.com/content/article/PII:S0165587612004375?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0165587612004375?httpAccept=text/plain
Seminars in Pediatric Neurology10.1016/j.spen.2010.02.012201017162-64Compound Heterozygous Polymerase Gamma Gene Mutation in a Patient With Alpers DiseaseJavier F. Cardenas, R. Stephen Amatohttps://api.elsevier.com/content/article/PII:S1071909110000197?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1071909110000197?httpAccept=text/plain
Nature Genetics10.1038/ng1297-4911997174491-494Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndromeColin T. Dolphin, Azara Janmohamed, Robert L. Smith, Elizabeth A. Shephard, lan R. Phillipshttp://www.nature.com/articles/ng1297-491, http://www.nature.com/articles/ng1297-491.pdf, http://www.nature.com/articles/ng1297-491.pdf
Genomics10.1006/geno.1997.50311997462260-267Structural Organization of the Human Flavin-Containing Monooxygenase 3 Gene (FMO3), the Favored Candidate for Fish-Odor Syndrome, Determined Directly from Genomic DNAColin T. Dolphin, John H. Riley, Robert L. Smith, Elizabeth A. Shephard, Ian R. Phillipshttps://api.elsevier.com/content/article/PII:S088875439795031X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S088875439795031X?httpAccept=text/plain
Frontiers in Pediatrics10.3389/fped.2020.0038020208A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case ReportJie Min, Bing Mao, Yong Wang, Xuelian He, Shuyang Gao, Hairong Wanghttps://www.frontiersin.org/article/10.3389/fped.2020.00380/full
Current Research in Translational Medicine10.1016/j.retram.2016.01.008201664265-68Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case reportA. Bakhchane, Z. Kindil, H. Charoute, K. Benchikhi, K. Khadir, S. Nadifi, K. Baline, R. Roky, A. Barakathttps://api.elsevier.com/content/article/PII:S245231861600009X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S245231861600009X?httpAccept=text/plain