A Homozygous Nonsense Variant in the BICC1 Gene Associated With Fetal Cystic Kidney Disease and Lower Limb Post-Axial Polydactyly

Am J Med Genet A. 2024 Dec 10:e63958. doi: 10.1002/ajmg.a.63958. Online ahead of print.

Authors

Vasundhara Parag Tamhankar^{1

2}, Malathy Prasad³, Shalin Vaniawala², Sandhya Nair⁴, Shilpa Mithbawkar¹, Parag M Tamhankar^{1

2

5}

Affiliations

¹ Centre for Medical Genetics, Mumbai, India.
² SN Gene Labs Pvt Ltd, Surat, India.
³ Trichy Fetal Medicine Centre, Tiruchirappalli, India.
⁴ Medgenome Labs Pvt Ltd, Bengaluru, India.
⁵ Department of Pediatrics, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth (Deemed to be University), Pune, India.

PMID: 39655693
DOI: 10.1002/ajmg.a.63958

No abstract available