Open AccessWeill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
Author(s) -
GuoYuan Yang,
Xi Huang,
Bing-Jie Chen,
Zhuping Xu
Publication year - 2021
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000001406
Subject(s) - exome sequencing , penetrance , ectopia lentis , omim : online mendelian inheritance in man , medicine , genetics , cataracts , copy number variation , exome , genetic heterogeneity , brachydactyly , ciliopathies , bioinformatics , mutation , short stature , ophthalmology , marfan syndrome , pediatrics , gene , biology , phenotype , genome