The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex.

Autor: Tamhankar V; Genetics, Centre for Medical Genetics, Mumbai, IND.; Genetics, SN GeneLab Pvt Ltd, Surat, IND., Patel SJ; Internal Medicine, Paaranu Women Super Specialties, Surat, IND., Kachhadiya T; Genetics, SN GeneLab Pvt Ltd, Surat, IND., Vaniawala S; Genetics, SN GeneLab Pvt Ltd, Surat, IND., Patel J; Obstetrics and Gynaecology, Paaranu Women Super Specialties, Surat, IND., Bhammar R; Genetics, SN GeneLab Pvt Ltd, Surat, IND., Patel S; Genetics, SN GeneLab Pvt Ltd, Surat, IND., Vaniawala S; Genetics, SN GeneLab Pvt Ltd, Surat, IND., Menon P; Pediatrics, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth (Deemed to be University), Pune, IND., Tamhankar PM; Genetics, SN GeneLab Pvt Ltd, Surat, IND.; Genetics, Centre for Medical Genetics, Mumbai, IND.; Pediatrics, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.

Publikováno v: Cureus [Cureus] 2024 Nov 07; Vol. 16 (11), pp. e73252. Date of Electronic Publication: 2024 Nov 07 (Print Publication: 2024).