Canto, P

A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. [electronic resource] - The Journal of clinical endocrinology and metabolism May 2000 - 1908-11 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0021-972X

10.1210/jcem.85.5.6609 doi


Adolescent
Amino Acid Substitution
DNA--blood
DNA-Binding Proteins--genetics
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Mosaicism
Mutation, Missense
Nuclear Family
Nuclear Proteins
Sex Determination Processes
Sex-Determining Region Y Protein
Transcription Factors
Turner Syndrome--genetics
Y Chromosome