相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study
Louise Amlie-Wolf et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)
SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys
Yi Wang et al.
CHINESE MEDICAL JOURNAL (2022)
Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations
Robin A. Pilz et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
Edoardo Errichiello et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
Patrick R. Blackburn et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Nicola Dennert et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism
Hirohito Shima et al.
ENDOCRINE JOURNAL (2017)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
A Novel Mutation in SOX2 Causes Hypogonadotropic Hypogonadism with Mild Ocular Malformation
Masaki Takagi et al.
HORMONE RESEARCH IN PAEDIATRICS (2014)
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities
Junichi Suzuki et al.
JOURNAL OF HUMAN GENETICS (2014)
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring
Zornitza Stark et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Supernumerary Impacted Teeth in a Patient With SOX2 Anophthalmia Syndrome
Chikahiko Numakura et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Novel SOX2 Mutations and Genotype-Phenotype Correlation in Anophthalmia and Microphthalmia
Adele Schneider et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Novel SOX2 partner-factor domain mutation in a four-generation family
Marija Mihelec et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Novel SOX2 mutation associated with ocular coloboma in a Chinese family
Panfeng Wang et al.
ARCHIVES OF OPHTHALMOLOGY (2008)
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development
Daniel Kelberman et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
P. Bakrania et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2007)
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement
Nicolas Chassaing et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
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)
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
KA Williamson et al.
HUMAN MOLECULAR GENETICS (2006)
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
OV Taranova et al.
GENES & DEVELOPMENT (2006)
SOX2 anophthalmia syndrome
NK Ragge et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Mutations in SOX2 cause anophthalmia
J Fantes et al.
NATURE GENETICS (2003)
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