Mutations of <i>NANOS1</i>, a human homologue of the <i>Drosophila</i> morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia

Abstract

This is the first report describing the association of NANOS1 gene mutations with human infertility. Two different infertility phenotypes may reflect distinct functions of N-terminal versus C-terminal regions of NANOS1.