A recurrent de novoFAM111Amutation causes kenny-caffey syndrome type 2-Reference-Cited by-同舟云学术

A recurrent de novoFAM111Amutation causes kenny-caffey syndrome type 2

Published:2014-03-19 Issue:4 Volume:29 Page:992-998
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Isojima Tsuyoshi¹,Doi Koichiro²,Mitsui Jun³,Oda Yoichiro⁴,Tokuhiro Etsuro⁵,Yasoda Akihiro⁶,Yorifuji Tohru⁷,Horikawa Reiko⁸,Yoshimura Jun²,Ishiura Hiroyuki³,Morishita Shinichi²,Tsuji Shoji³,Kitanaka Sachiko¹

Affiliation:

1. Department of Pediatrics, Graduate School of Medicine; The University of Tokyo; Tokyo Japan

2. Department of Computational Biology, Graduate School of Frontier Sciences; The University of Tokyo; Kashiwa Japan

3. Department of Neurology, Graduate School of Medicine; The University of Tokyo; Tokyo Japan

4. Department of Pediatrics; Ohta Nishinouchi Hospital; Koriyama Japan

5. Department of Pediatrics; Odawara City Hospital; Odawara Japan

6. Department of Medicine and Clinical Science; Kyoto University Graduate School of Medicine; Kyoto Japan

7. Department of Pediatric Endocrinology and Metabolism; Children's Medical Center, Osaka City General Hospital; Osaka Japan

8. Division of Endocrinology and Metabolism; National Center for Child Health and Development; Tokyo Japan

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference27 articles.

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2. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs-mother and son; coupled with transitory hypocalcemic tetany;Caffey;Am J Roentgenol Radium Ther Nucl Med.,1967

3. Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one;Fanconi;J Pediatr.,1986

4. The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy;Lee;Am J Med Genet.,1983

5. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant;Franceschini;Am J Med Genet.,1992

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