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Article

Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.

American journal of medical genetics. Part A - 1 Mar 2022

LeBlanc Samuel, Allain Eric P, Girouard Gabriel, Mallet Marcel, Amor Mouna Ben

Abstract excerpt

We present a case of a female diagnosed with primary ciliary dyskinesia (PCD) type 21 with non-previously reported extrapulmonary symptoms, including facial features and congenital vascular anomalies. Whole genome sequencing in our patient revealed a homozygous pathogenic variant in the DRC1 gene and no other notable structural nor punctual variants. This case demonstrates a unique clinical manifestation of PCD,...

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PMID: 34851034
DOI: 10.1002/ajmg.a.62586

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