Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.

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Abstract

LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies.

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Journal

Journal ID (iso-abbrev): J. Clin. Endocrinol. Metab.

Title: The Journal of clinical endocrinology and metabolism

Publisher: The Endocrine Society

ISSN (Electronic): 1945-7197

ISSN (Print): 0021-972X

Publication date (Electronic): Jun 2015

Volume: 100

Issue: 6

Affiliations

[1 ] Developmental Endocrinology Research Group (L.C.G., J.P.G.T., M.J.M., M.T.D.), Genetics and Epigenetics in Health and Disease Unit, Genetic and Genomic Medicine Programme, UCL Institute of Child Health, London WC1N 1EH, United Kingdom; Department of Pediatrics and Child Health (K.N.H.), Aga Khan University, Karachi 74800, Pakistan; and Department of Biology (S.J.R.), Indiana University-Purdue University Indianapolis, Indianapolis, Indiana 46202.

Article

DOI: 10.1210/jc.2014-4484

PMC ID: 4454798

PubMed ID: 25871839

SO-VID: e638e08d-cf72-411c-b0d1-3ecda46a7762

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