Open AccessA novel variant site of Alstrom syndrome in a Chinese child: a case report
Author(s) -
Rongrong Xu,
Hua Zhou,
Feng Fang,
Liru Qiu,
Xinglou Liu
Publication year - 2022
Publication title -
translational pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 13
eISSN - 2224-4344
pISSN - 2224-4336
DOI - 10.21037/tp-21-535
Subject(s) - medicine , exon , compound heterozygosity , acanthosis nigricans , alkaptonuria , omim : online mendelian inheritance in man , cystic fibrosis , genetics , gene , insulin resistance , dermatology , mutation , insulin , biology , phenotype
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom