Hillevi Lindelöf Eva Horemuzova Ulrika Voss Ann Nordgren Giedre Grigelioniene Anna Hammarsjö
10.3389/fendo.2022.862908
Front Endocrinol (Lausanne)
2022 Jun 13;13:862908.
lmx1b case report inversion nail-patella syndrome next generation sequencing skeletal dysplasia
CC BY
https://pubmed.ncbi.nlm.nih.gov/35769074/
Nail-Patella Syndrome / diagnosis Nail-Patella Syndrome / genetics
Nail-Patella Syndrome / diagnosis Nail-Patella Syndrome / genetics Case Reports Research Support, Non-U.S. Gov't Follow-Up Studies Humans LIM-Homeodomain Proteins / genetics Sweden Transcription Factors / genetics LIM-Homeodomain Proteins Transcription Factors
PMC9235307
35769074
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
2022