about
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionClinical and demographic associations with optic nerve hypoplasia in New Zealand.Combined pituitary hormone deficiency: current and future status.Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study.Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasiaReduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairmentSepto-optic dysplasia plus: a case report.Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies.Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia.Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.Magnetic resonance imaging of optic nerve.Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations.Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils.Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.Vascular cerebral anomalies associated with Septo-Optic Dysplasia. A case report.Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia.Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia.The eye as a window to rare endocrine disorders.Unilateral closed lip schizencephaly with septo-optic dysplasia.Ophthalmic clues to the endocrine disorders.Rare diseases in clinical endocrinology: a taxonomic classification system.Cholestasis caused by panhypopituitarism and acquired cytomegalovirus infection in a 2-month-old male infant: A case report.Septo-optic dysplasia: fitting the pieces together.Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.A case of schizencephaly and septo-optic dysplasia presenting with anterior encephaloceleEndocrine status of patients with septo-optic dysplasia: fourteen Japanese cases.Ophthalmic manifestations of endocrine disorders-endocrinology and the eye.Septo-optic dysplasia: illustration of a case.Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study.Septo-optic dysplasia in childhood: the neurological, cognitive and neuro-ophthalmological perspective.Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia.Septo-optic dysplasia plus diagnosed in adulthood.Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.Midbrain-hindbrain involvement in septo-optic dysplasia.Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child.Amyoplasia revisited
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Septo-optic dysplasia
@ast
Septo-optic dysplasia
@en
type
label
Septo-optic dysplasia
@ast
Septo-optic dysplasia
@en
prefLabel
Septo-optic dysplasia
@ast
Septo-optic dysplasia
@en
P2860
P356
P1476
Septo-optic dysplasia
@en
P2093
Emma A Webb
Mehul T Dattani
P2860
P2888
P304
P356
10.1038/EJHG.2009.125
P577
2009-07-22T00:00:00Z
P5875
P6179
1030661486