FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome.

Autor: Wang Q; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Wang HY; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China., Wu SY; Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, China., Wang XQ; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China., Wu HY; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Xie RR; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Wang FY; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Chen XL; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Chen LQ; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Lv HT; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China.; Department of Cardiology, Children's Hospital of Soochow University, Suzhou, China., Chen T; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China. chenting888@suda.edu.cn.; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China. chenting888@suda.edu.cn.; Department of Pediatrics, Kunshan Sixth People's Hospital, Suzhou, Jiangsu, China. chenting888@suda.edu.cn.
Jazyk: angličtina
Zdroj: World journal of pediatrics : WJP [World J Pediatr] 2024 Sep; Vol. 20 (9), pp. 976-980. Date of Electronic Publication: 2024 Jul 30.
DOI: 10.1007/s12519-024-00832-z
Databáze: MEDLINE