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

LeBlanc, S; Allain, EP; Girouard, G; Mallet, M; Ben Amor, M

Ben Amor, M (通讯作者)，Dr Georges L Dumont Univ Hosp Ctr, Moncton, NB E1C 2Z3, Canada.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3): 965

Abstract

We present a case of a female diagnosed with primary ciliary dyskinesia (PCD) type 21 with non-previously reported extrapulmonary symptoms, including ......

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