Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
Annals of Pediatric Endocrinology & Metabolism
;
: 59-63, 2015.
Artículo
en Inglés
| WPRIM
| ID: wpr-115861
ABSTRACT
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Exones
/
Mutagénesis Insercional
/
Sordera
/
Padre
/
Pérdida Auditiva Sensorineural
/
Heterocigoto
/
Hipoparatiroidismo
Límite:
Humanos
Idioma:
Inglés
Revista:
Annals of Pediatric Endocrinology & Metabolism
Año:
2015
Tipo del documento:
Artículo
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