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Lookup NU author(s): Dr Anne Lampe,
Professor Timothy Cheetham
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We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A→T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. Biochemical investigations and radiology confirmed growth hormone (GH), thyroid stimulating hormone (TSH) and adrenocorticotrophic hormone (ACTH) as well as gonadotrophin deficiency. They were also found to have optic nerve hypoplasia. This family suggests that the BFL gene product may play an important role in midline neuro-development including the hypothalamo-pituitary axis.
Author(s): Birrell G, Lampe A, Richmond S, Bruce SN, Gecz J, Lower K, Wright M, Cheetham TD
Publication type: Article
Publication status: Published
Journal: Journal of Pediatric Endocrinology and Metabolism
Print publication date: 01/01/2003
ISSN (print): 0334-018X
ISSN (electronic): 2191-0251
Publisher: Walter de Gruyter
PubMed id: 14714754