Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation
Clin Dysmorphol
.
2023 Oct 1;32(4):168-171.
doi: 10.1097/MCD.0000000000000472.
Epub 2023 Aug 2.
Authors
Vykuntaraju K Gowda
1
,
Arun Y Bylappa
1
,
Varunvenkat M Srinivasan
1
,
Varsha Manohar
1
,
Himani Pandey
2
Affiliations
1
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru.
2
Department of Molecular Genetics, Lab head- clinical Genomics Redcliffe Labs, New Delhi, India.
PMID:
37646740
DOI:
10.1097/MCD.0000000000000472
No abstract available
MeSH terms
Amelogenesis Imperfecta*
Dementia*
Epilepsy*
Humans
Mutation
Substances
ROGDI protein, human
Supplementary concepts
Kohlschutter Tonz syndrome