article_metadata: Hillevi Lindelöf Eva Horemuzova Ulrika Voss Ann Nordgren Giedre Grigelioniene Anna Hammarsjö
article_metadata: 10.3389/fendo.2022.862908
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2022 Jun 13;13:862908.
article_metadata: lmx1b case report inversion nail-patella syndrome next generation sequencing skeletal dysplasia
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/35769074/
article_metadata: Nail-Patella Syndrome / diagnosis Nail-Patella Syndrome / genetics
article_metadata: 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
article_metadata: PMC9235307
article_metadata: 35769074
article_metadata: Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
article_metadata: 2022