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Updated: Mar 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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PITUITARY STALK INTERRUPTION SYNDROME CAUSED BY NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN THE KATNIP GENE

S Bahar Akin1, I Tolga Ozgen2, B Uyanik3

  • 1Health Sciences University Derince Training and Research Hospital - Department of Pediatrics, Division of Pediatric Endocrinology, Kocaeli.

Acta Endocrinologica (Bucharest, Romania : 2005)
|March 9, 2026
PubMed

Keywords:
Combined pituitary hormone deficiencyKATNIP genecompound heterozygote novel mutationpituitary stalk interruption syndrome

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