• <em>ANKRD17</em>-Related Neurodevelopmental Syndrome
• <em>FGF9</em>-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family
• <em>SATB2-</em>Associated Syndrome
• <em>TP63</em>-Related Disorders
• A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome
• A Complex Intrachromosomal Rearrangement Disrupting <em>IRF6</em> in a Family with Popliteal Pterygium and Van der Woude Syndromes
• A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review
• A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
• A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
• A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly
• A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome
• A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia
• A Systematic Evaluation of the Quality of Health Information on Cleft Lip and Palate in the Arabic Language
• Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review
• An extremely rare case of Oro-facial digital syndrome: A case report
• Assessment of craniofacial and dental characteristics in individuals with treacher collins syndrome. A review
• Association between <em>IRF6, TP63, GREM1</em> Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study
• Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case-Control and Family-Based Study
• Association of <em>MTHFR</em> 677C &gt; T gene polymorphism with neonatal defects: a meta-analysis of 81444 subjects
• Association of methylenetetrahydrofolate reductase gene variant C677T and folate levels in non-syndromic cleft lip/palate among Sindhi, Pakistani population
• Atypical cortical thickness and folding of language regions in Chinese nonsyndromic cleft lip and palate children after speech rehabilitation
• Autosomal Recessive Stickler Syndrome
• Birk-Barel Intellectual Disability Dimorphism and KCNK9 Imprinting Syndrome: Craniofacial Surgery Considerations for an Exceedingly Rare Syndrome
• Brazilian Multiethnic Association Study of Genetic Variant Interactions among <em>FOS, CASP8</em>, <em>MMP2</em> and <em>CRISPLD2</em> in the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate
• Brazilian Multiethnic Association Study of Genetic Variant Interactions among FOS, CASP8, MMP2 and CRISPLD2 in the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate
• Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney
• Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management
• Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome
• Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia
• Clinical Characteristics of the Cleft Lip and/or Palate: Association with Congenital Anomalies, Syndromes, and Chromosomal Anomalies
• Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome
• Craniofacial phenotypes associated with Robinow syndrome
• Deletion of Exon 1 in <em>AMER1</em> in Osteopathia Striata with Cranial Sclerosis
• Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series
• Dental Considerations in Patients with Loeys-Dietz Syndrome: A Review of the Literature and Case Report
• DNA methylation differences in monozygotic twins with Van der Woude syndrome
• Dominant Stickler Syndrome
• Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
• Evaluation of facial aesthetics by laypersons in patients undergoing intraoral quadrangular Le Fort II osteotomy compared with conventional Le Fort I osteotomy
• Evaluation of genome-wide association signals for nonsyndromic cleft lip with or without cleft palate in a multiethnic Brazilian population
• Evaluation of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) in human cases with orofacial clefts: A systematic review
• Familial cleft tongue caused by a unique translation initiation codon variant in TP63
• Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care
• From excitement to self-doubt and insecurity: Speech-language pathologists' perceptions and experiences when treating children with a cleft palate
• Further Evidence of a Continuum in the Clinical Spectrum of Dominant <em>PIEZO2</em>-Related Disorders and Implications in Cerebellar Anomalies
• Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies
• Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis
• Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations
• Goltz Syndrome Combined with Triple X Syndrome, a Case Report
• Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
• In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events
• Increased susceptibility for nonsyndromic cleft lip with or without cleft palate by SLC19A1 80G>A genetic variation
• Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature
• Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome
• Intracranial Aneurysms in Loeys-Dietz Syndrome: A Multicenter Propensity-Matched Analysis
• Loeys-Dietz Syndrome
• Long-term nitrogen and phosphorus removal, shifts of functional bacteria and fate of resistance genes in bioretention systems under sulfamethoxazole stress
• Management of an Anticipated Difficult Airway in a Pediatric Patient With Stickler Syndrome
• Maternal genotypes of folate/one-carbon metabolism gene variants and nonsyndromic cleft lip with or without cleft palate risk in Chile
• Microbial contamination profile change over a 4-year period in nonoperated cleft soft palate
• Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome
• Monodactyly in a patient with CHARGE syndrome: An additional case report
• Mosaicism in Hartsfield syndrome
• MSX1 Gene Polymorphisms in Patients with non-Syndromic Cleft lip and Palate: A Tertiary Care Centre Based Case-Control Study from Central Kerala
• Muenke Syndrome
• Mutations in Van Der Woude Families From Ethiopia
• Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums
• Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature
• Nevoid Basal Cell Carcinoma Syndrome
• Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel
• Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
• Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes
• Oral Cleft Related-Genes may be Involved in Root Curvature of Maxillary Lateral Incisors
• Oral-Facial-Digital Syndrome Type 1: A Case Report and Review
• Osteoblastic RAR Inhibition Causes VAD-Like Craniofacial Skeletal Deformity
• PARD3 gene variation as candidate cause of nonsyndromic cleft palate only
• Phenotypic and cytogenetic variability of patau syndrome in Morocco
• Popliteal Pterygium With Van Der Woude Syndrome
• Prenatal Diagnosis of Acromelic Frontonasal Dysostosis
• Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome
• Primer on fibroblast growth factor 7 (FGF 7)
• Random Network and Non-rich-club Organization Tendency in Children With Non-syndromic Cleft Lip and Palate After Articulation Rehabilitation: A Diffusion Study
• Rare Association of Ankyloblepharon Filiforme Adnatum (AFA) with Cleft Palate - Case Report
• Review of clinical and molecular variability in autosomal recessive cutis laxa 2A
• Role of MTHFR, IRF6, PAX7 and TP63 SNPs in susceptibility to non-syndromic orofacial cleft, a candidate gene study in a Portuguese population
• Septal Lipoma and Cleft Palate: Particular Association, Particular Treatment?
• SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype
• Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations
• Surgical Treatment of Lip Pits in Van der Woude Syndrome: A Preliminary Retrospective Study of 24 Patients
• The Chromatin Regulator <em>Ankrd11</em> Controls Palate and Cranial Bone Development
• The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development
• The role of the dentist and the orthodontist in early diagnosis of Gorlin-Goltz syndrome: a cephalometric and photometric study
• The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4
• TP63-related disorders: two case reports and a brief review of the literature
• Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
• Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only
• Van Der Woude Syndrome: A Case Series at Chu D' Treichville, Abidjan, Cote D' Ivoire
• Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile
• Waardenburg Syndrome
• Waardenburg Syndrome