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

作　　者：Qing Wang Hong-Ying Wang Shui-Yan Wu Xue-Qian Wang Hai-Ying Wu Rong-Rong Xie Feng-Yun Wang Xiu-Li Chen Lin-Qi Chen Hai-Tao Lv Ting Chen 

机构地区：[1]Department of Endocrinology,Genetics and Metabolism,Children’s Hospital of Soochow University,Suzhou,China [2]Suzhou Clinical Center for Rare Diseases in Children,Children’s Hospital of Soochow University,Suzhou,China [3]Intensive Care Unit,Children’s Hospital of Soochow University,Suzhou,China [4]Department of Cardiology,Children’s Hospital of Soochow University,Suzhou,China [5]Department of Pediatrics,Kunshan Sixth People’s Hospital,Suzhou,Jiangsu,China

出　　处：《World Journal of Pediatrics》2024年第9期976-980,共5页世界儿科杂志（英文版）

基　　金：supported by the Suzhou Personnel Planning Project(GSWS2020046);the Suzhou Science and Technology Development Project(SKY2023007);the Research Project of Jiangsu Commission of Health(M2021082);the Summit Project of Clinical Medicine(ML13100523)awarded to Ting Chen;It’s also supported by the Jiangsu Provincial Maternal and Child Health Care Program(F202119)awarded to Hong-Ying Wang;the Suzhou Clinical enter for Rare Disease(Szlcyxzxj202105).

摘　　要：FLNB encodes the protein filamin B(FLNB),which is expressed in chondrocytes of the human growth plate[1].To date,pathogenic mutations in the FLNB gene have solely been found to cause skeletal deformities,indicating the crucial role of FLNB in skeletal development.FLNB-related disorders include spondylocarpotarsal synostosis(SCT,OMIM:272,460).

关 键 词：INSUFFICIENCY SKELETAL expanded 

分 类 号：R726.8[医药卫生—儿科]