WES sequence of the affected daughter in the TPOF family B
Homo sapiens
Exome sequencing identifies MCM9 mutation in ovarian failure, short stature and chromosomal instability. The Turkey family have one affected daughter and one unaffected daughter.
isolate
WES of the affected daughter in the TPOF family B
age
16
biomaterial_provider
Cukurova University, Division of Pediatric Endocrinology, Adana, 01330 Turkey
sex
female
tissue
blood
BioSampleModel
Human