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

Autor: Whyte MP; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mwhyte@wustl.edu., Weinstein RS; Division of Endocrinology, Metabolic Bone Diseases, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. Electronic address: WeinsteinRobertS@uams.edu., Phillips PH; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: PhillipsPaulH@uams.edu., McAlister WH; Mallinckrodt Institute of Radiology at St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mcalisterw@wustl.edu., Ramakrishnaiah RH; Department of Radiology, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: Raghuhr@uams.edu., Schaefer GB; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: SchaeferGB@uams.edu., Cai R; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA., Hutchison MR; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: MRHutchinson@salud.unm.edu., Duan S; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: sduan@wustl.edu., Gottesman GS; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: gsgottesman@wustl.edu., Mumm S; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: smumm@wustl.edu.

Publikováno v: Bone [Bone] 2024 Nov; Vol. 188, pp. 117218. Date of Electronic Publication: 2024 Jul 30.

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Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.

Autor: Ma, Nina S., Mumm, S., Takahashi, S., Levine, M. A.

Publikováno v: Current Osteoporosis Reports; Feb2023, Vol. 21 Issue 1, p85-94, 10p

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.

Autor: Whyte MP; Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA.; Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children - St. Louis St. Louis MO USA., Mumm S; Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA.; Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children - St. Louis St. Louis MO USA., Baker JC; Mallinckrodt Institute of Radiology, Musculoskeletal Section Washington University School of Medicine St. Louis MO USA., Zhang F; Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children - St. Louis St. Louis MO USA., Sedighi H; Department of Plastic Surgery Washington University School of Medicine at St. Louis Children's Hospital St. Louis MO USA., Duan S; Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine at Barnes-Jewish Hospital St. Louis MO USA., Cundy T; Faculty of Medical & Health Sciences University of Auckland Auckland New Zealand.

Publikováno v: JBMR plus [JBMR Plus] 2023 Mar 02; Vol. 7 (4), pp. e10717. Date of Electronic Publication: 2023 Mar 02 (Print Publication: 2023).

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

Autor: Smith PS; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA.; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Washington University School of Medicine at St. Louis Children's Hospital, St. Louis, MO, USA., Gottesman GS; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA., Zhang F; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA., Cook F; Divsion of Endocrinology, Department of Internal Medicine, Brody School of Medicine, Greenville, NC, USA., Ramirez B; Divsion of Endocrinology, Department of Internal Medicine, Brody School of Medicine, Greenville, NC, USA., Wenkert D; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA., Wollberg V; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA., Huskey M; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA., Mumm S; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA.; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA., Whyte MP; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA.; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Washington University School of Medicine at St. Louis Children's Hospital, St. Louis, MO, USA.; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA.

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2020 May; Vol. 35 (5), pp. 920-931. Date of Electronic Publication: 2020 Mar 10.