Article
Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family.
Human genetics - 1 Dec 1992
Carré-Eusèbe D, Imbeaud S, Harbison M, New M I, Josso N, Picard J Y
Abstract excerpt
The persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism, characterized by the persistence of Müllerian derivatives in otherwise normal males. Two mutations, present in the homozygous state, have been previously described in such patients. The present observation...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Anti-Mullerian Hormone
- Base Sequence
- Cloning, Molecular
- DNA
- DNA Mutational Analysis
- Enzyme-Linked Immunosorbent Assay
- Female
- Glycoproteins
- Growth Inhibitors
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mullerian Ducts