Persistent Mullerian duct syndrome, type I

OMIM:261550
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	AMH
DNA Change	2096G>T
A.A. Change	Glu358Stop
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N, Picard JY.Anti-Mullerian hormone Bruxelles: a nonsense mutation associated with the persistent M?llerian duct syndrome. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3767-71.

---

  Variant not named according to HGVS recommendations