Congenital Isolated ACTH Deficiency Caused by TBX19 Gene Mutation: A Family Report
Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disorder that may be conducive to hypoglycemia, cholestasis, and seizures. We reported on two siblings with a homozygous mutation of the TBX19 gene, C.377 (exon2) C>T, p. P126L. Their parents had heterozygous mutations on...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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