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Search: authors:"Emmanuelle Caldagues"

2 papers found.
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Association of maternal nutrition with transient neonatal hyperinsulinism

curation: Mathilde Louvigne, Emmanuelle Caldagues, Isabelle Souto, Yanis Montcho, Audrey Migraine Bouvagnet, Olivier Baud, Jean Claude Carel, Geraldine Gascoin, Regis Coutant. Formal analysis: Mathilde ... Louvigne, Geraldine Gascoin, Regis Coutant. Investigation: Stephanie Rouleau, Emmanuelle Caldagues, Isabelle Souto, Yanis Montcho, Audrey Migraine Bouvagnet, Olivier Baud, Jean Claude Carel, Regis Coutant

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

LHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pituitary hormone deficiency (CPHD) in Humans. We identified 4 new LHX4 heterozygous allelic variants in patients with congenital hypopituitarism: W204X, delK242, N271S and Q346R. Our objective...