Raine Syndrome (OMIM #259775), Caused ByFAM20CMutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)-Reference-Cited by-同舟云学术

Raine Syndrome (OMIM #259775), Caused ByFAM20CMutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

Published:2016-12-14 Issue:4 Volume:32 Page:757-769
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Whyte Michael P¹²,McAlister William H³,Fallon Michael D⁴,Pierpont Mary Ella⁵,Bijanki Vinieth N¹,Duan Shenghui²,Otaify Ghada A¹²⁶,Sly William S⁷,Mumm Steven¹²

Affiliation:

1. Center for Metabolic Bone Disease and Molecular Research; Shriners Hospital for Children; St. Louis MO USA

2. Division of Bone and Mineral Diseases, Department of Internal Medicine; Washington University School of Medicine at Barnes-Jewish Hospital; St. Louis MO USA

3. Department of Pediatric Radiology, Mallinckrodt Institute of Radiology; Washington University School of Medicine at St. Louis Children's Hospital; St. Louis MO USA

4. Department of Surgical Pathology; University of Pennsylvania School of Medicine; Philadelphia PA USA

5. Department of Pediatrics; University of Minnesota School of Medicine, and Children's Hospitals and Clinics of Minnesota; Minneapolis MN USA

6. Department of Clinical Genetics, Division of Human Genetics and Genome Research; Centre of Excellence of Human Genetics, National Research Centre; Cairo Egypt

7. E.A. Doisey Department of Biochemistry; St. Louis University School of Medicine; St. Louis MO USA

Funder

Shriners Hospitals for Children

Barnes-Jewish Hospital Foundation

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference57 articles.

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2. 2016 https://www.omim.org/

3. Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis;Raine;J Med Genet,1989

4. A new lethal sclerosing bone dysplasia;Kingston;Skeletal Radiol,1991

5. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome);Kan;Am J Med Genet,1992

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