Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital
It is imperative to maintain a high index of suspicion for MODY 5 in patients presenting with renal anomalies and diabetes, even in the absence of a family history. Early identification allows for screening family members and ensures a comprehensive approach to identifying and managing other abnormalities in these patients.
Authors
- Shantala Jayaram
- Sekar Kanthimathi (ORCID: https://orcid.org/0000-0001-6778-5832)
- Viswanathan Mohan (ORCID: https://orcid.org/0000-0001-5038-6210)
- Ankit Chhabra (ORCID: https://orcid.org/0000-0001-9770-5645)
- Shariq Rashid Masoodi (ORCID: https://orcid.org/0000-0002-8664-9614)
- Raiz Ahmad Misgar (ORCID: https://orcid.org/0000-0001-8186-3139)
- Ajaz Qadir (ORCID: https://orcid.org/0000-0003-1390-2102)
- Venkatesan Radha
- Sachi Jayaram
- S. Gopi
Institutions
- Rajarajeswari Medical College and Hospital (IN)
- Sher-i-Kashmir Institute of Medical Sciences (IN)
- Madras Diabetes Research Foundation (IN)
- Dr. Mohan's Diabetes Specialities Centre (IN)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2024-10-14
- DOI
- https://doi.org/10.1515/jpem-2024-0428
- Citations
- 2
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 1.15