Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.

Autor: Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Kometani M; Division of Endocrinology and Hypertension, Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan., Zeitlin L; Pediatric Bone Clinic, Orthopaedic Department, Tel Aviv Medical Center, Tel Aviv, Israel., Wilnai Y; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Kinoshita A; Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan., Yoshiura KI; Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan., Ninomiya H; Department of Molecular Medicine for Pathogenesis, Ehime University Graduate School of Medicine, Toon, Japan., Imamura T; Department of Molecular Medicine for Pathogenesis, Ehime University Graduate School of Medicine, Toon, Japan., Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Xue J; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Yan L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Ohashi H; Division of Medical Genetics, Saitama Children's Medical Genetics, Saitama, Japan., Pretemer Y; Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan., Kawai S; Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan., Shiina M; Department of Biochemistry, Yokohama City University, Yokohama, Japan., Ogata K; Department of Biochemistry, Yokohama City University, Yokohama, Japan., Cohn DH; Department of Molecular, Cell, and Developmental Biology, Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, CA, USA., Matsumoto N; Department of Human Genetics, Yokohama City University, Yokohama, Japan., Nishimura G; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Toguchida J; Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan., Miyake N; Department of Human Genetics, Yokohama City University, Yokohama, Japan., Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. sikegawa@yahoo.co.jp.

Publikováno v: Journal of human genetics [J Hum Genet] 2024 Nov; Vol. 69 (11), pp. 599-605. Date of Electronic Publication: 2024 Jul 16.

Papilledema Treated by Cranial Expansion in a 5-Year-Old Boy with Camurati-Engelmann Syndrome.

Autor: Chang MY; The Vision Center at the Children's Hospital of Los Angeles, Los Angeles, California; Roski Eye Center, University of Southern California, Los Angeles, California., Borchert MS; The Vision Center at the Children's Hospital of Los Angeles, Los Angeles, California; Roski Eye Center, University of Southern California, Los Angeles, California.

Publikováno v: Ophthalmology [Ophthalmology] 2019 Nov; Vol. 126 (11), pp. 1579.

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[Ribbing disease: apropos of a case].

Autor: Sánchez de León-Corral M; Servicio de Cirugía Ortopédica y Traumatología. Hospital Universitario de Torrejón. Torrejón de Ardoz, Madrid, España., de Rus-Aznar I; Servicio de Cirugía Ortopédica y Traumatología. Hospital Universitario de Torrejón. Torrejón de Ardoz, Madrid, España., Fernández-Mardomingo Gutiérrez J; Servicio de Cirugía Ortopédica y Traumatología. Hospital Universitario de Torrejón. Torrejón de Ardoz, Madrid, España., Tormo-Martínez S; Servicio de Cirugía Ortopédica y Traumatología. Hospital Universitario de Torrejón. Torrejón de Ardoz, Madrid, España., Sanz-Ferrando L; Servicio de Cirugía Ortopédica y Traumatología. Hospital Universitario de Torrejón. Torrejón de Ardoz, Madrid, España.

Publikováno v: Acta ortopedica mexicana [Acta Ortop Mex] 2023 Mar-Apr; Vol. 37 (2), pp. 113-117.

Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.

Autor: Liang H; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Jiajue R; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Qi W; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Liu W; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Chi Y; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Li M; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Xing X; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Xia W; Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Oct 20; Vol. 13, pp. 1041061. Date of Electronic Publication: 2022 Oct 20 (Print Publication: 2022).