A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B .

Authors :: Jang J
Im H
Lee H
Sung H
Cho SI
Lee JS
Ko JM
Seong MW
Source :: Annals of laboratory medicine [Ann Lab Med] 2024 Nov 01; Vol. 44 (6), pp. 625-627. Date of Electronic Publication: 2024 Jul 23.
Publication Year :: 2024

Subjects :: Humans
Male
Female
Mosaicism
Sequence Deletion
Adult
Germ-Line Mutation
Nail-Patella Syndrome genetics
Nail-Patella Syndrome diagnosis
LIM-Homeodomain Proteins genetics
LIM-Homeodomain Proteins metabolism
Transcription Factors genetics
Pedigree

Full Text Access

Tools