4.5 Article

Novel SOX2 partner-factor domain mutation in a four-generation family

Related references

Note: Only part of the references are listed.
Article Ophthalmology

Novel SOX2 mutation associated with ocular coloboma in a Chinese family

Panfeng Wang et al.

ARCHIVES OF OPHTHALMOLOGY (2008)

Article Genetics & Heredity

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes

Juan Carlos Zenteno et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Biochemistry & Molecular Biology

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

KA Williamson et al.

HUMAN MOLECULAR GENETICS (2006)

Letter Genetics & Heredity

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

L Faivre et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Genetics & Heredity

Heterozygous mutations of OTX2 cause severe ocular malformations

NK Ragge et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Article Genetics & Heredity

SOX2 anophthalmia syndrome

NK Ragge et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Biochemistry & Molecular Biology

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

VA Voronina et al.

HUMAN MOLECULAR GENETICS (2004)

Article Genetics & Heredity

Mutations in SOX2 cause anophthalmia

J Fantes et al.

NATURE GENETICS (2003)

Article Genetics & Heredity

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

EF Percin et al.

NATURE GENETICS (2000)

Review Genetics & Heredity

Pairing SOX off with partners in the regulation of embryonic development

Y Kamachi et al.

TRENDS IN GENETICS (2000)