Article
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Human molecular genetics - 15 Jul 2008
Rajab Anna, Kelberman Daniel, de Castro Sandra C P, Biebermann Heike, Shaikh Hala, Pearce Kerra, Hall Catherine M, Shaikh Guftar, Gerrelli Dianne, Grueters Annette, Krude Heiko, Dattani Mehul T
Abstract excerpt
Homozygous loss-of-function mutations in the transcription factor LHX3 have been associated with hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. We report two novel recessive mutations in LHX3 in four patients from two unrelated pedigrees. Clinical evaluation revealed that all four patients exhibit varying degrees of bilateral...
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