Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities

BackgroundIn humans, pituitary hormone deficiency may be part of a syndrome including extra-pituitary defects like ocular abnormalities. Very few genes have been linked to this particular phenotype. In the mouse, Lhx2, which encodes a member of the LIM (Lin-11, Isl-1, and Mec-3) class of homeodomain...

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Veröffentlicht in:	European journal of endocrinology 2012-07, Vol.167 (1), p.85-91
Hauptverfasser:	Pérez, Christelle, Dastot-Le Moal, Florence, Collot, Nathalie, Legendre, Marie, Abadie, Isabelle, Bertrand, Anne-Marie, Amselem, Serge, Sobrier, Marie-Laure
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Blindness - genetics Child Child, Preschool Clinical study Endocrinopathies Female Fundamental and applied biological sciences. Psychology Genetic Testing Genetics Growth Disorders - genetics Human health and pathology Humans Infant Life Sciences LIM-Homeodomain Proteins - genetics Male Medical sciences Mutation, Missense Optic Nerve - abnormalities Optic Nerve Diseases - genetics Pituitary Gland, Posterior - abnormalities Prevention and actions Promoter Regions, Genetic Public health. Hygiene Public health. Hygiene-occupational medicine Septo-Optic Dysplasia - genetics Tissues and Organs Transcription Factors - genetics Vertebrates: endocrinology
Online-Zugang:	Volltext
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