A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.
Resource Type
Report
Authors
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; de Oliveira Stephan B; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.; Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Source
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE