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Article

Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Nov 2024

Misgar Raiz A, Qadir Ajaz, Masoodi Shariq Rashid, Jayaram Shruthi, Chhabra Ankit, Jayaram Shantala, Radha Venkatesan, Gopi Sundarmoorthy, Mohan Viswanathan, Kanthimathi Sekar

Abstract excerpt

OBJECTIVES: To study the clinical and genotypic spectrum of patients with HNF-1ß deletions (MODY 5) at a tertiary care hospital. METHODS: This study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hepatocyte Nuclear Factor 1-beta

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Identifiers

PMID: 39401123
DOI: 10.1515/jpem-2024-0428

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