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Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.

Maria Elisa AmodeoElena InzaghiAnnalisa DeodatiStefano Cianfarani
Published in: Molecular genetics & genomic medicine (2021)
Dubowitz syndrome (DS) includes different clinical findings variably occurring. Subjects with a Dubowitz phenotype should be carefully monitored for endocrinological anomalies. The prompt recognition of potential life-threatening endocrinological condition for example adrenal insufficiency is mandatory in order to start an adequate and early treatment.
Keyphrases
  • case report
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