Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

doi:10.1016/j.ajhg.2018.03.007

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Article

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

American journal of human genetics - 5 Apr 2018

Dong Frederick N, Amiri-Yekta Amir, Martinez Guillaume, Saut Antoine, Tek Julie, Stouvenel Laurence, Lorès Patrick, Karaouzène Thomas, Thierry-Mieg Nicolas, Satre Véronique, Brouillet Sophie, Daneshipour Abbas, Hosseini Seyedeh Hanieh, Bonhivers Mélanie, Gourabi Hamid, Dulioust Emmanuel, Arnoult Christophe, Touré Aminata, Ray Pierre F, Zhao Haiqing, Coutton Charles

Abstract excerpt

The multiple morphological abnormalities of the flagella (MMAF) phenotype is among the most severe forms of sperm defects responsible for male infertility. The phenotype is characterized by the presence in the ejaculate of immotile spermatozoa with severe flagellar abnormalities including flagella being short, coiled, absent, and of irregular caliber. Recent studies have demonstrated that MMAF is genetically...

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PMID: 29606301
DOI: 10.1016/j.ajhg.2018.03.007
PMCID: PMC5985338

Genes

CFAP69

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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.PMID 29606301Read ↗

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Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).Semantic proximity Read ↗

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