• <em>De novo</em> frameshift mutation in <em>YAP1</em> associated with bilateral uveal coloboma and microphthalmia
• <em>NAA10</em> polyadenylation signal variants cause syndromic microphthalmia
• 3D facial morphometry in Italian patients affected by Aicardi syndrome
• A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
• A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly
• A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings
• A mosaic form of microphthalmia with linear skin defects
• A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
• A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
• AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome
• Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome
• Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report
• Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene
• Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia
• Causes of congenital corneal opacities and their management in a tertiary care center
• Central Corneal Thickness in Aphakic Children With Microcornea-Microphthalmia
• Central serous chorioretinopathy after trabeculectomy in a patient with microphthalmos and congenital rubella syndrome
• Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management
• Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study
• Chronic gliosis and behavioral deficits in mice following repetitive mild traumatic brain injury
• Clinical and genetic investigation of families with type II Waardenburg syndrome
• Clinical and genetic investigation of families with Waardenburg syndrome type 2
• Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome
• Clinical features and orbital anomalies in Fraser syndrome and a review of management options
• Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
• Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India
• Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia
• Congenital linear streaks on the face and neck and microphthalmia in an infant girl
• Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark
• Constituents of Cryptotaenia japonica Inhibit Melanogenesis via CREB- and MAPK-Associated Signaling Pathways in Murine B16 Melanoma Cells
• COX7B mutations in MIDAS syndrome or microphthalmia with linear skin defects (MLS)
• Dandy-Walker Variant Associated with Bilateral Congenital Cataract
• Demographics and histopathological characteristics of enucleated microphthalmic globes
• Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome
• Diagnostic approach to eosinophilic renal neoplasms
• Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant
• Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009
• Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
• Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases
• Extensive circumferential partial-thickness sclerectomy in eyes with extreme nanophthalmos and spontaneous uveal effusion
• Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review
• Eyes on CHARGE syndrome: Roles of CHD7 in ocular development
• Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
• Familial Nanophthalmos Presenting with Spontaneous Uveal Effusion Syndrome
• First Clinical Report of Two <em>RAB3GAP1</em> Pathogenic Variant in Warburg Micro Syndrome
• Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India
• Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
• FOXE3 mutations: genotype-phenotype correlations
• Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2
• Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia
• Germline mutations predisposing to melanoma
• Haploinsufficiency of <em>BMP4</em> and <em>OTX2</em> in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy
• Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing
• Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3
• Induction of Immune Surveillance of the Dysmorphogenic Lens
• Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles
• Lens-Sparing Surgery for Retrolental Stalk in Persistent Fetal Vasculature
• Linear skin defects and microphthalmia
• Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder
• Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia
• Maternal cytomegalovirus infection and delayed language development in children at 3 years of age-a nested case-control study in a large population-based pregnancy cohort
• Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion
• Microphthalmia with linear skin defects (MLS) syndrome: familial presentation
• Microphthalmia with linear skin defects syndrome (MIDAS)
• Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
• Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma
• Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (<em>PQBP1</em>) gene
• Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome
• Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
• Multilevel Stabilization Screws Prevent Proximal Junctional Failure and Kyphosis in Adult Spinal Deformity Surgery: A Comparative Cohort Study
• Multiple pancreatic neuroendocrine tumors in OFCD syndrome caused by somatic BCOR mosaicism
• Multisystem Involvement in a Patient with a <em>PTCH1</em> Mutation: Clinical and Imaging Findings
• Mutation analysis of seven patients with Waardenburg syndrome
• Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
• Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome
• NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
• Neurological Complications of Congenital Zika Virus Infection
• New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report
• Novel <em>BMP4</em> Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia
• Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria
• Ocular and adnexal anomalies in craniofacial microsomia: a systematic review
• Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness
• Ophthalmo-acromelic syndrome in an infant
• Pathogenesis and Manifestations of Zika Virus-Associated Ocular Diseases
• Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
• Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease
• Prenatal description of retinal coloboma
• Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
• Prevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis
• Progressive Cone-Rod Dystrophy and RPE Dysfunction in <em>Mitf^mi/+</em> Mice
• Ptosis Correction
• Routine investigation of foetal eyes--in what way and what for?
• Spontaneous Stalk Regression in Persistent Fetal Vasculature Syndrome
• Successful recovery from misdirection syndrome in nanophthalmic eyes by performing an anterior vitrectomy through the anterior chamber
• Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo
• The phenotypic spectrum associated with OTX2 mutations in humans
• The pro-apoptotic Bax gene modifies susceptibility to craniofacial dysmorphology following gastrulation-stage alcohol exposure
• Torticollis in children: an alert symptom not to be turned away
• UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
• Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome