Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report

To analyze clinical and imaging features, ciliary structure and family gene mutation loci of a primary ciliary dyskinesia (PCD) boy with a dual-allele heterozygous mutation of DNAH5. Clinical data of the proband and relatives. Electronic bronchoscopy, transmission electron microscope (TEM) of the ci...

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Veröffentlicht in:	Medicine (Baltimore) 2023-12, Vol.102 (52), p.e36271-e36271
Hauptverfasser:	Shi, Yu, Lei, Qihong, Han, Qing
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acids Axonemal Dyneins - genetics Clinical Case Report Humans Infant Kartagener Syndrome - diagnosis Kartagener Syndrome - genetics Male Mutation
Online-Zugang:	Volltext
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