P420: Novel SLC26A2 variants in two adults with autosomal recessive multiple epiphyseal dysplasia type 4: Informed by genotype-phenotype correlation

Bibliographic Details
Main Authors: Amy Patterson, Julie Hoover-Fong
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424004606