| Literature DB >> 3812586 |
P H Saldanha, I J Arnhold, B B Mendonça, W Bloise, S P Toledo.
Abstract
We report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male-limited autosomal recessive pattern of inheritance; its implication for the mutational dynamics in the populations is evaluated.Entities:
Mesh：
Year: 1987 PMID： 3812586 DOI： 10.1002/ajmg.1320260212
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299