A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion

Clin Genet. 2021 Apr;99(4):607-608. doi: 10.1111/cge.13909. Epub 2021 Jan 8.

Authors

Noriko Miyake¹, Bruno de Oliveira Stephan², Chong Ae Kim², Naomichi Matsumoto¹

Affiliations

¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
² Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.

PMID: 33416188
DOI: 10.1111/cge.13909

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Attention Deficit Disorder with Hyperactivity / genetics
Autism Spectrum Disorder / genetics
Brazil
Causality
Consanguinity
Developmental Disabilities / genetics*
Epilepsy, Tonic-Clonic / genetics*
Genetic Association Studies
Homozygote
Humans
Infant, Newborn
Male
Pedigree
RNA Splice Sites / genetics*
Sequence Deletion*
Sodium-Phosphate Cotransporter Proteins, Type IIc / genetics*

Substances

RNA Splice Sites
SLC34A3 protein, human
Sodium-Phosphate Cotransporter Proteins, Type IIc