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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제1호
- 발행연도
- 2015.1
- 수록면
- 59 - 63 (5page)
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초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Adachi M / 2006 / A novel mutation in GATA3 gene in a family with HDR syndrome(hypoparathyroidism, sensorineural deafness and renal anomaly syndrome) / J Pediatr Endrocrinol
Aksoylar S / 2004 / HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis / J Clin Endocrinol
Barakat AY / 1997 / Familial nephrosis, nerve deafness, and hypoparathyroidism / J Pediatr 91 : 61 ~ 64
Bilous RW / 1992 / Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia / N Engl J Med 327 : 1069 ~ 1074
Chiu WY / 2006 / Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population / J Clin Endocr
Aksoylar S / 2004 / HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis / J Clin Endocrinol
Barakat AY / 1997 / Familial nephrosis, nerve deafness, and hypoparathyroidism / J Pediatr 91 : 61 ~ 64
Bilous RW / 1992 / Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia / N Engl J Med 327 : 1069 ~ 1074
Chiu WY / 2006 / Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population / J Clin Endocr
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