Josefina Chinton

5PUBLICATIONS
18CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsHaematological tumoursNanomedicineNaturopathyGene mapping
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Publications (5)

|Sep 14, 2026
Molecular diagnosis of spinal muscular atrophy: Experience in a pediatric hospital in Argentina.

|Feb 10, 2025
Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.

Mariana Del Pino, Gisela Viterbo, María Agustina Valentini

|Jun 11, 2022
Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.

Josefina Chinton, Victoria Huckstadt, Maria Eugenia Foncuberta

|Jan 25, 2021
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.

Victoria Huckstadt, Josefina Chinton, Abel Gomez

|Dec 12, 2019
Providing more evidence on LZTR1 variants in Noonan syndrome patients.

Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo

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Frequent Collaborators

3 joint publications

Victoria Huckstadt

2 joint publications

Maria Eugenia Foncuberta

2 joint publications

Luis Pablo Gravina

2 joint publications

María Gabriela Obregon