Ontology highlight
ABSTRACT:
SUBMITTER: Bechtold-Dalla Pozza S
PROVIDER: S-EPMC3355643 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Bechtold-Dalla Pozza Susanne S Hiedl Stefan S Roeb Julia J Lohse Peter P Malik Raleigh E RE Park Soyoung S Durán-Prado Mario M Rhodes Simon J SJ
Hormone research in paediatrics 20120126 1
<h4>Background/aims</h4>Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD) who harbor a novel mutation in LHX3.<h4>Methods</h4>Two female siblings from related parents were examined. Both patients had neonatal complications. The index patient had CPHD featuring deficiencies of GH, LH, FSH, PRL, and TSH, with la ...[more]