Skip to main content
Fig. 2 | Human Genomics

Fig. 2

From: Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

Fig. 2

Genetic results of the family. A Homozygous intervals in the patient’s genome, as determined by HomozygosityMapper. MSGN1 resides in a ~ 13.2 Mb homozygous interval on chromosome 2 (black arrow). B Sanger sequencing electropherogram of the patient’s variant in MSGN1. The mutated base is indicated by a black arrow. C Segregation of the MSGN1 variant within the family

Back to article page

Human Genomics

ISSN: 1479-7364