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

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 heter...

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Vydáno v:Mol Syndromol
Hlavní autoři: Mishra, Ranjana, Jain, Vibha, Gupta, Deepti, Saxena, Renu, Kulshreshtha, Samarth, Ramprasad, Vedam L., Verma, Ishwar C., Dua Puri, Ratna
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2020
Témata:
Novel Insights from Clinical Practice
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109436/
https://ncbi.nlm.nih.gov/pubmed/32256301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505506
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