Adriana Mangue Esquiaveto-Aun

3PUBLICATIONS
10CO-AUTHORS
Medical genetics (excl. cancer genetics)Developmental genetics (incl. sex determination)Neonatology
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Publications (3)

|Oct 18, 2024
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.

Carolina Paniago Lopes, Gentil Ferreira Gonçalves, Maria Fernanda Vanti Macedo Paulino

|Jan 20, 2024
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.

Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Mara Sanches Guaragna

|Nov 21, 2015
A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.

Adriana Mangue Esquiaveto-Aun, Maricilda Palandi De Mello, Maria Fernanda Vanti Macedo Paulino

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