• <em>CDK5RAP2</em> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
• <em>CTDP1</em>-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
• <em>PAX6</em>-Related Aniridia
• <em>PPP1R12A</em>-Related Urogenital and/or Brain Malformation Syndrome
• <em>SOX2</em> Disorder
• 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
• 14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability
• 3D facial morphometry in Italian patients affected by Aicardi syndrome
• 8q21.11 microdeletion in two patients with syndromic peters anomaly
• A complex phenotype in a family with a pathogenic SOX3 missense variant
• A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
• A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia
• A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits
• A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
• A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
• A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
• A TRISOMY 13 CASE PRESENTING WITH CONGENITAL DIAPHRAGMATIC HERNIA AND MICROPHTHALMIA
• A Very Rare Partial Trisomy Syndrome: <em>De Novo</em> Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features
• Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss
• An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
• An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome
• Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
• Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report
• ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
• Associated malformations among infants with anophthalmia and microphthalmia
• Baraitser-Winter Cerebrofrontofacial Syndrome
• Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
• Biallelic variants in PSMB1 encoding the proteasome subunit beta6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
• Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
• Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature
• Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study
• Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13
• Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
• Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child
• Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia
• Congenital microcephaly-linked CDK5RAP2 affects eye development
• De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report
• De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
• De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
• Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome
• Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
• Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
• Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses
• ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18
• Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
• 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
• Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
• Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing
• First Clinical Report of Two <em>RAB3GAP1</em> Pathogenic Variant in Warburg Micro Syndrome
• First Report of Mexican Patients with <em>PACS1</em>-Related Neurodevelopmental Disorder and Review of the <em>PACS1</em>-, <em>PACS2</em>-, and <em>WDR37</em>-Related Ophthalmological Manifestations
• Fryns Syndrome
• Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
• Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment
• Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
• Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
• Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome
• Identification of a novel microdeletion causative of Nance-Horan syndrome
• Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing
• Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
• Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia
• Kaufman Oculocerebrofacial Syndrome
• Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
• Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes
• Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
• Microphthalmia with Linear Skin Defects Syndrome
• 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
• Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene
• Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
• 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
• Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
• Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia
• Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
• NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
• Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
• Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
• Neurological findings in incontinentia pigmenti; a review
• New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review
• New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene
• Novel <em>RAB3GAP1</em> Mutation in the First Tunisian Family With Warburg Micro Syndrome
• Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
• Ocular manifestations in the X-linked intellectual disability syndromes
• Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2
• Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome
• Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
• Phenotypic and cytogenetic variability of patau syndrome in Morocco
• Phenotypic variability in Patau syndrome
• Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
• RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION
• Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development
• Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome
• Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study
• Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
• Secondary congenital aphakia
• Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum
• SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
• SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
• Warburg Micro syndrome
• Warburg micro syndrome in two children from a highly inbred Turkish family
• Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy