Resources

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred

Molecular syndromology, Vol. 11, Issue 1, Pages 43-49, 2020

PMID: 32256301

We report a family with a spectrum of short stature, craniofacial dysmorphism, and digital anomalies in a father and 2 daughters, with the youngest (proband) displaying a severe phenotype. Clinically, autosomal dominant Robinow syndrome (ADRS) was diagnosed. Whole-exome sequencing identified a heterozygous pathogenic BMP2 variant in the father and his daughters.

Read More

  https://www.ncbi.nlm.nih.gov/pubmed/32256301

 

Considering Genomic Research?

    Fields marked in * is mandatory to fill
     
     
     

    2024 © MedGenome • All Rights Reserved
    Request a Quote