Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

BACKGROUND: Congenital combined pituitary hormone deficiency (CPHD) is a rare heterogeneous group of conditions. CPHD-type 3 (CPHD3; MIM# 221750) is caused by recessive mutations in LHX3, a LIM-homeodomain transcription factor gene. The isoforms of LHX3 are critical for pituitary gland formation and...

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Detalles Bibliográficos
Publicado en:BMC Endocr Disord
Main Authors: Ramzan, Khushnooda, Bin-Abbas, Bassam, Al-Jomaa, Lolwa, Allam, Rabab, Al-Owain, Mohammed, Imtiaz, Faiqa
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5356396/
https://ncbi.nlm.nih.gov/pubmed/28302169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-017-0164-8
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