Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing.
- DOI
- 10.1155/crpe/3604592
- Published
- 2025
- Container
- Case reports in pediatrics
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1155/crpe/3604592,
title = {Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing.},
author = {Silvia Beatriz Sanchez Marco and Pardington E and Monaghan M and Spaull R and Fadilah A and Kurian K and Vijayakumar K and Smithson S and Majumdar A},
year = {2025},
journal = {Case reports in pediatrics},
doi = {10.1155/crpe/3604592},
url = {https://doi.org/10.1155/crpe/3604592}
}RIS
TY - JOUR TI - Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing. AU - Silvia Beatriz Sanchez Marco AU - Pardington E AU - Monaghan M AU - Spaull R AU - Fadilah A AU - Kurian K AU - Vijayakumar K AU - Smithson S AU - Majumdar A PY - 2025 JO - Case reports in pediatrics DO - 10.1155/crpe/3604592 UR - https://doi.org/10.1155/crpe/3604592 ER -
APA
Marco, S. B. S., E, P., M, M., R, S., A, F., K, K., K, V., S, S., & A, M. (2025). Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing.. Case reports in pediatrics. https://doi.org/10.1155/crpe/3604592
Source records
- pubmed · retrieved 2026-09-26T19:57:04.904Z