Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/36335
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Type: Journal article
Title: Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
Author: Birrell, G.
Lampe, A.
Richmond, S.
Bruce, S.
Gecz, J.
Lower, K.
Wright, M.
Citation: Journal of Pediatric Endocrinology and Metabolism, 2003; 16(9):1295-1300
Publisher: Freund Publishing House Ltd
Issue Date: 2003
ISSN: 0334-018X
2191-0251
Statement of
Responsibility: 
Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, Wright M, Cheetham TD.
Abstract: 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.
Keywords: Pituitary Gland
Corpus Callosum
Optic Nerve
Humans
Eye Abnormalities
Cryptorchidism
Abnormalities, Multiple
Genetic Diseases, X-Linked
Hypoglycemia
Hyperbilirubinemia
Syndrome
Pituitary Hormones
Codon, Nonsense
Magnetic Resonance Imaging
Hormone Replacement Therapy
Electrophoresis, Polyacrylamide Gel
Physiognomy
Siblings
Gene Expression
Genes, Recessive
Infant, Newborn
Male
Agenesis of Corpus Callosum
DOI: 10.1515/jpem.2003.16.9.1295
Appears in Collections:Aurora harvest 6
Paediatrics publications

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