HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

David E G McNay; James P Turton; Daniel Kelberman; Kathryn S Woods; Raja Brauner; Anastasios Papadimitriou; Eberhard Keller; Alexandra Keller; Nele Haufs; Heiko Krude; Stephen M Shalet; Mehul T Dattani

doi:10.1210/jc.2006-1609

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

David E G McNay, James P Turton, Daniel Kelberman, Kathryn S Woods, Raja Brauner, Anastasios Papadimitriou, Eberhard Keller, Alexandra Keller, Nele Haufs, Heiko Krude, Stephen M Shalet, Mehul T Dattani

Aberdeen Centre For Environmental Sustainability

Research output: Contribution to journal › Article › peer-review

126 Citations (Scopus)

Abstract

Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis.

Original language	English
Pages (from-to)	691-697
Number of pages	7
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	92
Issue number	2
DOIs	https://doi.org/10.1210/jc.2006-1609
Publication status	Published - 2007

Keywords

Adult
Animals
Base Sequence
CHO Cells
Cricetinae
Cricetulus
Female
Homeodomain Proteins
Humans
Hypopituitarism
Infant, Newborn
Male
Maternal Age
Molecular Sequence Data
Optic Nerve
Pedigree
Phenotype
Pituitary Gland
Point Mutation
Polymorphism, Single-Stranded Conformational
Septo-Optic Dysplasia

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10.1210/jc.2006-1609

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title = "HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism",

abstract = "Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis.",

keywords = "Adult, Animals, Base Sequence, CHO Cells, Cricetinae, Cricetulus, Female, Homeodomain Proteins, Humans, Hypopituitarism, Infant, Newborn, Male, Maternal Age, Molecular Sequence Data, Optic Nerve, Pedigree, Phenotype, Pituitary Gland, Point Mutation, Polymorphism, Single-Stranded Conformational, Septo-Optic Dysplasia",

author = "McNay, {David E G} and Turton, {James P} and Daniel Kelberman and Woods, {Kathryn S} and Raja Brauner and Anastasios Papadimitriou and Eberhard Keller and Alexandra Keller and Nele Haufs and Heiko Krude and Shalet, {Stephen M} and Dattani, {Mehul T}",

year = "2007",

doi = "10.1210/jc.2006-1609",

language = "English",

volume = "92",

pages = "691--697",

journal = "Journal of Clinical Endocrinology and Metabolism",

issn = "0021-972X",

publisher = "The Endocrine Society",

number = "2",

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T1 - HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

AU - McNay, David E G

AU - Turton, James P

AU - Kelberman, Daniel

AU - Woods, Kathryn S

AU - Brauner, Raja

AU - Papadimitriou, Anastasios

AU - Keller, Eberhard

AU - Keller, Alexandra

AU - Haufs, Nele

AU - Krude, Heiko

AU - Shalet, Stephen M

AU - Dattani, Mehul T

PY - 2007

Y1 - 2007

N2 - Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis.

AB - Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis.

KW - Adult

KW - Animals

KW - Base Sequence

KW - CHO Cells

KW - Cricetinae

KW - Cricetulus

KW - Female

KW - Homeodomain Proteins

KW - Humans

KW - Hypopituitarism

KW - Infant, Newborn

KW - Male

KW - Maternal Age

KW - Molecular Sequence Data

KW - Optic Nerve

KW - Pedigree

KW - Phenotype

KW - Pituitary Gland

KW - Point Mutation

KW - Polymorphism, Single-Stranded Conformational

KW - Septo-Optic Dysplasia

U2 - 10.1210/jc.2006-1609

DO - 10.1210/jc.2006-1609

M3 - Article

C2 - 17148560

SN - 0021-972X

VL - 92

SP - 691

EP - 697

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 2

ER -

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

Abstract

Keywords

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