Nonimmune hydrops fetalis with skeletal dysplasia due to a novel homozygous recessive TAPT1 splice-donor variant

Naren Satya Srinivas M., Shivani Mishra, Himani Pandey, Aayushi Gupta, Varunvenkat M. Srinivasan, Devi Lal

Open source

DOI
10.1097/mcd.0000000000000577
Published
2026-09-14
Container
Clinical Dysmorphology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Open access
unknown

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BibTeX

@article{allodium:10.1097/mcd.0000000000000577,
  title = {Nonimmune hydrops fetalis with skeletal dysplasia due to a novel homozygous recessive TAPT1 splice-donor variant},
  author = {Naren Satya Srinivas M. and Shivani Mishra and Himani Pandey and Aayushi Gupta and Varunvenkat M. Srinivasan and Devi Lal},
  year = {2026},
  journal = {Clinical Dysmorphology},
  doi = {10.1097/mcd.0000000000000577},
  url = {https://doi.org/10.1097/mcd.0000000000000577}
}

RIS

TY  - JOUR
TI  - Nonimmune hydrops fetalis with skeletal dysplasia due to a novel homozygous recessive TAPT1 splice-donor variant
AU  - Naren Satya Srinivas M.
AU  - Shivani Mishra
AU  - Himani Pandey
AU  - Aayushi Gupta
AU  - Varunvenkat M. Srinivasan
AU  - Devi Lal
PY  - 2026
JO  - Clinical Dysmorphology
DO  - 10.1097/mcd.0000000000000577
UR  - https://doi.org/10.1097/mcd.0000000000000577
ER  - 

APA

M., N. S. S., Mishra, S., Pandey, H., Gupta, A., Srinivasan, V. M., & Lal, D. (2026). Nonimmune hydrops fetalis with skeletal dysplasia due to a novel homozygous recessive TAPT1 splice-donor variant. Clinical Dysmorphology. https://doi.org/10.1097/mcd.0000000000000577

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