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Peer-reviewedCC BYCureus

Novel Homozygous Consensus Splice Site Variant in the BORCS8 Gene Associated With Fetal Semi-lobar Holoprosencephaly

  • Parag M Tamhankar1
  • Vasundhara Tamhankar2
  • Deval Shah3
  • Tushar Kachhadiya4
  • Shilpa Mithbawkar2
  • Shalin Vaniawala4
  • Jyoti C Suvarna5
  • Salil Vaniawala4
  • Pramila Menon1
  • Shailaja Mane1
  • Dhavendra Kumar6
6 affiliations
  1. 1Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pimpri, Pune, IND
  2. 2Genetics, Centre for Medical Genetics, Mumbai, IND
  3. 3Obstetrics and Gynaecology, Astha Hospital, Deesa, IND
  4. 4Genetics, SN Gene Lab Pvt Ltd, Surat, IND
  5. 5Pediatrics, Holy Spirit Hospital, Mumbai, IND
  6. 6Genetics, The William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, GBR
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Cite

BibTeXRIS
BibTeX
@article{tamhankar2026novel,
  title = {{Novel Homozygous Consensus Splice Site Variant in the BORCS8 Gene Associated With Fetal Semi-lobar Holoprosencephaly}},
  author = {Parag M Tamhankar and Vasundhara Tamhankar and Deval Shah and Tushar Kachhadiya and Shilpa Mithbawkar and Shalin Vaniawala and Jyoti C Suvarna and Salil Vaniawala and Pramila Menon and Shailaja Mane and Dhavendra Kumar},
  journal = {Cureus},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13707616},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Novel Homozygous Consensus Splice Site Variant in the BORCS8 Gene Associated With Fetal Semi-lobar Holoprosencephaly
AU  - Parag M Tamhankar
AU  - Vasundhara Tamhankar
AU  - Deval Shah
AU  - Tushar Kachhadiya
AU  - Shilpa Mithbawkar
AU  - Shalin Vaniawala
AU  - Jyoti C Suvarna
AU  - Salil Vaniawala
AU  - Pramila Menon
AU  - Shailaja Mane
AU  - Dhavendra Kumar
PY  - 2026
DA  - 2026/10/27
JO  - Cureus
UR  - https://europepmc.org/article/PMC/PMC13707616
SN  - 2168-8184
ER  -