Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing

Congenital hypopituitarism (CH), septo-optic dysplasia (SOD), and holoprosencephaly (HPE) constitute an important group of structural birth defects that cause significant morbidity and life-long consequences for quality of life and care. The genetic causes are highly overlapping. As such, these diso...

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Detaylı Bibliyografya
Yayımlandı:J Endocr Soc
Asıl Yazarlar: Vishnopolska, Sebastian, Mercogliano, María Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana Marcela, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan Pablo, Marti, Marcelo, Kitzman, Jacob, Camper, Sally Ann, Perez-Millan, Maria Ines
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2021
Konular:
Pediatric Endocrinology
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090718/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1462
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