Intrafamilial phenotypic variability in two siblings with primary ciliary dyskinesia due to homozygous loss of function mutation in the CCDC151 gene

Rras Abu Hanna; Dario Prais; Yoav Zehavi; Waheeb Sakran; Ronen Spiegel

Intrafamilial phenotypic variability in two siblings with primary ciliary dyskinesia due to homozygous loss of function mutation in the CCDC151 gene

Rras Abu Hanna, Dario Prais, Yoav Zehavi, Waheeb Sakran, Ronen Spiegel^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Original language	English
Pages (from-to)	260-262
Number of pages	3
Journal	Israel Medical Association Journal
Volume	22
Issue number	4
State	Published - Apr 2020

Keywords

Autosomal recessive
CCDC151 gene
Genotype-phenotype correlation
Primary ciliary dyskinesia (PCD)
Situs inversus

Cite this

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title = "Intrafamilial phenotypic variability in two siblings with primary ciliary dyskinesia due to homozygous loss of function mutation in the CCDC151 gene",

keywords = "Autosomal recessive, CCDC151 gene, Genotype-phenotype correlation, Primary ciliary dyskinesia (PCD), Situs inversus",

author = "Hanna, {Rras Abu} and Dario Prais and Yoav Zehavi and Waheeb Sakran and Ronen Spiegel",

year = "2020",

month = apr,

language = "אנגלית",

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AU - Hanna, Rras Abu

AU - Prais, Dario

AU - Zehavi, Yoav

AU - Sakran, Waheeb

AU - Spiegel, Ronen

PY - 2020/4

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KW - Autosomal recessive

KW - CCDC151 gene

KW - Genotype-phenotype correlation

KW - Primary ciliary dyskinesia (PCD)

KW - Situs inversus

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JO - Israel Medical Association Journal

JF - Israel Medical Association Journal

IS - 4

ER -

Intrafamilial phenotypic variability in two siblings with primary ciliary dyskinesia due to homozygous loss of function mutation in the CCDC151 gene

Keywords

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