Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy
Abstract Background Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome caused by TRIM37 gene variants characterized by growth failure, dysmorphic features and congestive heart failure. We report a 6-year-old boy with Mulibrey nanism and Jacobs syndrome who was...
Saved in:
| Main Authors: | Pritti Kumari, Rohina Aggarwal, Akshi Valodara, Hetvi Patel, Dipak Dhoriya, Ankita Suthar, Somesh Aggarwal |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-04-01
|
| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00694-8 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Jane Jacobs, a Rebel with a Cause
by: Jan Steyaert
Published: (2012-07-01) -
Negativität in der Psychologie Jacob Böhmes
by: Thomas Isermann
Published: (2021-10-01) -
Violence et déraison dans L’Obéissance de Suzanne Jacob
by: Hanène LOGBI
Published: (2016-12-01) -
Studying the Zar ritual in Hormozgan and Its Correlation with Jacob L. Moreno’s Theories in Psychodrama
by: Tannaz Ebrahimi Saber, et al.
Published: (2024-12-01) -
Jacob Lawrence’s Migration series: a pictorial memory of black America
by: Eliane Elmaleh
Published: (2007-01-01)