Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder

Author:

Whyte Michael P.,Weinstein Robert S.,Phillips Paul H.,McAlister William H.,Ramakrishnaiah Raghuhr H.,Schaefer G. Bradley,Cai Rongsheng,Hutchison Michele R.,Duan Shenghui,Gottesman Gary S.,Mumm Steven

Funder

Foundation for Barnes-Jewish Hospital

Shriners Hospitals for Children

Publisher

Elsevier BV

Reference19 articles.

1. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling;Guo;Nat. Commun.,2021

2. Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), World Wide Web URL: http://omim.org/. Accessed May 20, 2024.

3. Osteopetrosis: gene-based nosology and significance;Teti;Bone,2023

4. Whyte MP: Sclerosing bone disorders. Chapter #107 In: “Primer On Metabolic Bone Diseases and Disorders of Mineral Metabolism,” (10th Ed). American Society for Bone and Mineral Research, Wiley-Blackwell, (in press).

5. Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders;Whyte;J. Bone Miner. Res.,1996

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