Associated Papers
The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development.
Pachernegg S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H et al.
Npj Genomic Medicine, 2021
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.
Tajouri A et al.
Human Mutation, 2018
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