• <em>NFIX</em> gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review
• A case of septo-optic dysplasia-plus presenting as episodic memory loss
• A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome
• A novel de novo heterozygous mutation in the SON gene associated to Septo-optic dysplasia: a new phenotype?
• A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype
• A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene
• Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation
• Absent Cavum Septi Pellucidi
• Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
• Acute Adrenal Insufficiency Caused by Mental Stress in a Patient With Adrenocorticotropic Hormone Deficiency
• Adrenal crisis during a trip in a young child with septo-optic dysplasia
• AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome
• Antenatal diagnosis of absence of septum pellucidum
• Appetite- and Weight-Regulating Neuroendocrine Circuitry in Hypothalamic Obesity
• Association of prepregnancy body mass index and gestational weight gain on severity of optic nerve hypoplasia
• Bilateral Microphthalmia with Septo-Optic Dysplasia
• Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child
• Central diabetes insipidus and pain medications - a risky combination
• Central Diabetes Insipidus in Children as a Diagnostic Challenge
• Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
• Clinical features and imaging characteristics in achiasmia
• Co-occurrence of Attention-Deficit/Hyperactivity Disorder and Septo-Optic Dysplasia: A Neurodevelopmental Case Report
• Congenital Blindness and Autism Spectrum Disorder
• Congenital cataract and congenital glaucoma in Marshall-Smith syndrome
• Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease
• Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome
• De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
• Delineating septo-optic dysplasia
• Development of the Pituitary Gland
• Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
• Developmental Genes and Malformations in the Hypothalamus
• Diabetes Insipidus Complicating Management in a Child with COVID-19 and Multiorgan System Failure: A Novel Use for Furosemide
• Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil
• Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders
• Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review
• Extra-pituitary midline structural abnormalities associated with ectopic posterior pituitary detected on a new rapid MRI protocol (FAST1.2)
• Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature
• Gastroschisis and septo-optic-pituitary dysplasia: Is there an association?
• Growth hormone deficiency in a case of septo-optic-dysplasia due to <em>SOX2</em> mutation: should we re-test patients during the transition period?
• Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?
• Hypernatremia in an Infant: A Case of Septo-Optic Dysplasia
• Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!
• Hypothalamic syndrome
• Hypothesis: By-products of vascular disruption carried in the CSF affect prenatal brain development
• Imaging of Congenital Malformations of the Brain
• Incidental diagnosis of septo-optic dysplasia in an adult: a case report
• Isolated Absent Septum Pellucidum: A Retrospective Study of Fetal Diagnosis and Postnatal Outcomes
• Knockout mice with pituitary malformations help identify human cases of hypopituitarism
• Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia
• Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis
• Management of transient central diabetes insipidus with intravenous desmopressin in a premature infant with gastroschisis and septo-optic dysplasia: A case report
• Multiple Endocrine Deficiencies are Common in Hypoparathyroidism-Retardation-Dysmorphism Syndrome
• Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review
• Neuroimaging Features in Children with Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia
• Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia
• Neuropathology of Septo-optic Dysplasia: A Report of 4 Autopsy Cases
• Novel Genetic Diagnoses in Septo-Optic Dysplasia
• Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing
• Ocular manifestations of systemic diseases in children
• Ophthalmic &amp; neuroimaging associations in optic nerve hypoplasia/septo-optic-pituitary dysplasia
• Ophthalmic and Neuroimaging Associations In Optic Nerve Hypoplasia/Septo-Optic-Pituitary Dysplasia
• Partial ectopic posterior pituitary: A rare imaging entity with literature review
• Patient journey experiences may contribute to improve healthcare for patients with rare endocrine diseases
• Patients with septo-optic dysplasia: General ophthalmologic assessment and retinal imaging
• Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
• Pituitary deficiencies related to optic nerve hypoplasia and visual acuity
• Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta-analysis
• Prenatal diagnosis of isolated agenesis of the septum pellucidum with ultrasound and magnetic resonance imaging
• Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: Report of two cases
• Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline
• Rare encounter: Adult-onset temporal lobe schizencephaly with septo-optic dysplasia - a case report on comprehensive diagnosis and management
• Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency
• Review of the MRI brain findings of septo-optic dysplasia
• Risk factors in children with optic nerve hypoplasia and septo-optic dysplasia
• Role of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review
• Role of Fetal MRI in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review
• Segmental Agenesis of the Corpus Callosum With Pituitary Hypoplasia
• Selected Ophthalmological Features in Children with Septo-Optic Dysplasia and Optic Nerve Hypoplasia
• Septo optic dysplasia plus: about a case
• Septo-optic dysplasia
• Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report
• Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination
• Septo-optic dysplasia in an infant
• Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report
• Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report
• Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia
• Septo-optic Dysplasia with Cerebellar Hemiagenesis
• Septo-Optic Dysplasia with Cerebellar Hemiagenesis: A Rare Congenital Malformation
• Septo-optic dysplasia with fovea plana: A case report
• Septo-Optic Dysplasia: A Case Series of 33 Patients
• Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases
• Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study
• Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report
• The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report
• The phenotypic spectrum associated with OTX2 mutations in humans
• The Prevalence of Brain Abnormalities in Japanese Patients with Optic Nerve Hypoplasia
• Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia
• Ultrasound Assessment of the Fetal Optic Chiasm
• Unilateral optic nerve hypoplasia in a case of septo-optic dysplasia
• Visual Acuity Outcomes in Children With Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia