HDR syndrome in a Japanese girl with biliary atresia: a case report-Reference-Cited by-同舟云学术

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HDR syndrome in a Japanese girl with biliary atresia: a case report

Published:2016-01-22 Issue:1 Volume:16 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Higuchi Yousuke,Hasegawa Kosei,Yamashita Miho,Fujii Yousuke,Tanaka Hiroyuki,Tsukahara Hirokazu

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-016-0550-9

Reference13 articles.

1. Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet. 1997;73:416–8.

2. Shoback D. Clinical practice. Hypoparathyroidism. N Engl J Med. 2008;359:391–403.

3. Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, et al. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem. 2004;279:22624–34.

4. Heubi JE, Hollis BW, Tsang RC. Bone disease in chronic childhood cholestasis. II. Better absorption of 25-OH vitamin D than vitamin D in extrahepatic biliary atresia. Pediatr Res. 1990;27:26–31.

5. Holick MF. Vitamin D, deficiency. N Engl J Med. 2007;357:266–81.

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3. HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism;Case Reports in Endocrinology;2019-05-16

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