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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease congenital adrenal hyperplasia
Comorbidity C0014130|endocrine disease
Sentences 2
PubMedID- 21932595 Objective: to develop a reliable and accurate preimplantation genetic diagnosis (pgd) method in six families with endocrine diseases: persistent hyperinsulinemic hypoglycemia of infancy (phhi), congenital adrenal hyperplasia (cah) salt-wasting form, sanjat-sakati syndrome and multiple endocrine neoplasia 2a (men 2a).
PubMedID- 24568018 Genettreating congenital adrenal hyperplasia.ic alterations associated with rare endocrine diseases disrupt the body's normal chemical communication system.

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