CDKN1C-Related Beckwith-Wiedemann Syndrome: First Patient from India

Autor: Arora, Veronica, Takkar, Aashita, Dubey, Sudhisha, Gupta, Deepti, Saxena, Renu, Verma, I.C

Publikováno v: Journal of Pediatric Genetics; December 2024, Vol. 13 Issue: 4 p330-334, 5p

The role of behavioral phenotyping in establishing a diagnosis of pseudo-angelman syndrome.

Autor: Arora, Veronica, Takkar, Aashita, Bhatia, Sameer, Lall, Meena, Kumar, Praveen

Publikováno v: Indian Pediatrics Case Reports; Apr-Jun2022, Vol. 2 Issue 2, p84-87, 4p

CDKN1C -Related Beckwith-Wiedemann Syndrome: First Patient from India.

Autor: Arora V; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Takkar A; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Dubey S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Gupta D; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Saxena R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Verma IC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2023 Mar 31; Vol. 13 (4), pp. 330-334. Date of Electronic Publication: 2023 Mar 31 (Print Publication: 2024).