Discordant fetal phenotype of hypophosphatasia in two siblings-Reference-Cited by-同舟云学术

Discordant fetal phenotype of hypophosphatasia in two siblings

Published:2017-11-21 Issue:1 Volume:176 Page:171-174
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ikenoue Satoru¹^ORCID,Miyakoshi Kei¹,Ishii Tomohiro²,Sato Yu¹,Otani Toshimitsu¹,Akiba Yohei¹,Kasuga Yoshifumi¹,Ochiai Daigo¹,Matsumoto Tadashi¹,Ichihashi Yosuke²,Matsuzaki Yohei²,Tachikawa Kanako³,Michigami Toshimi³,Nishimura Gen⁴,Ikeda Kazushige²⁵,Hasegawa Tomonobu²,Tanaka Mamoru¹

Affiliation:

1. Department of Obstetrics and Gynecology; Keio University School of Medicine; Tokyo Japan

2. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan

3. Department of Bone and Mineral Research; Research Institute; Osaka Women's and Children's Hospital; Osaka Japan

4. Department of Pediatric Imaging; Tokyo Metropolitan Children's Medical Center; Tokyo Japan

5. Division of Neonatology; Perinatal Center for Maternal and Child Health; Saitama City Hospital; Saitama Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras;Cai;The Journal of Clinical Endocrinology and Metabolism,1998

2. Metabolic abnormalities in hypophosphatasia;Fraser;Lancet,1955

3. Phenotypically dissimilar hypophosphatasia in two sibships;Macfarlane;American Journal of Medical Genetics,1992

4. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia;Michigami;European Journal of Pediatrics,2005

5. Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene;Mornet;Human Mutation,2000

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