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Article

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.

American journal of medical genetics - 15 Jan 2001

Hisama F M, Zemel S, Cherniske E M, Vladutiu G D, Pober B R

Abstract excerpt

Gonadal (ovarian) dysgenesis in 46,XX individuals is genetically heterogeneous. We report on two sisters who, in addition to primary ovarian failure, have marked short stature and recurrent episodes of dehydration with metabolic acidosis. Studies performed during one of these episodes suggested mitochondrial dysfunction; however, results of biochemical analysis of electron transport chain activity in skeletal...

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PMID: 11223846
DOI: 10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co;2-4

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