Genotype and phenotype studies of Lowe syndrome in three families in Taiwan
Pediatr Neonatol
.
2021 May;62(3):327-328.
doi: 10.1016/j.pedneo.2021.01.012.
Epub 2021 Feb 6.
Authors
Kuan-Jung Chen
1
,
Hsin-Ru Wu
1
,
Mei-Chyn Chao
2
,
Tung-Ming Chang
3
,
Jien-Wen Chien
4
,
Ming Chen
5
,
Gwo-Chin Ma
5
,
Yu-Yuan Ke
6
Affiliations
1
Division of Pediatric Genetics and Metabolism, Changhua Christian Children's Hospital, Changhua, Taiwan.
2
Division of Pediatric Genetics and Metabolism, Changhua Christian Children's Hospital, Changhua, Taiwan. Electronic address: mcchao1@gmail.com.
3
Division of Pediatric Neurology, Changhua Christian Children's Hospital, Changhua, Taiwan.
4
Division of Pediatric Nephrology, Changhua Christian Children's Hospital, Changhua, Taiwan.
5
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
6
Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
PMID:
33745830
DOI:
10.1016/j.pedneo.2021.01.012
No abstract available
MeSH terms
Genotype
Humans
Mutation
Oculocerebrorenal Syndrome*
Phenotype
Taiwan