The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.

Case Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications.

[Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novoNLRP3 variant].

Paediatric-Onset Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: Is It a Different Disease?

Sirolimus for Recurrent Chylothorax and Edema in an Infant with Noonan Syndrome after Resolved Hydrops Fetalis: A Case Report.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.

A Case of Neonatal Hypomelanosis of Ito With Early-Onset Refractory Seizures and Cortical Malformations.

Parry-Romberg Syndrome With Localized Scleroderma: A Report of Two Pediatric Cases From Oman.

One-stage versus two-stage surgical correction of blepharophimosis-ptosis-epicanthus inversus syndrome: a retrospective comparative study.

Persistent Liver Manifestations in Allopurinol-Induced Sweet's Syndrome: An Uncommon Case Report.

Clinical analysis of hyperimmunoglobulin E syndrome in children with STAT3 and DOCK8 mutations in different genotypes.

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) caused by niraparib: a novel antineoplastic agent.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Do nerve resection, amputation, and immunotherapy relieve causalgia in the long term?

OXSeg: Multidimensional Attention UNet-Based Lip Segmentation Using Semi-Supervised Lip Contours.

Treatment of systemic lupus erythemus overlap syndrome with autoimmune hepatitis using a combination of glucocorticoids and immunosuppressive agents: Case report.

Arterial tortuosity syndrome.

Encephalocraniocutaneous lipomatosis-a neuroradiological perspective.

Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature.

A Case of Rowell Syndrome: Excellent Response to Oral Cyclosporine.

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.

Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.

Fluconazole-induced drug rash with eosinophilia and systemic symptoms syndrome: a case report.

RHOA-associated disorder can be non-mosaic.

Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.

Isolated Cutis Marmorata Telangiectatica Congenita in a Full-Term Neonate: A Case Report.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

Identification of a novel pathogenic XPC:c.2420 + 1 G>C variant in a patient with xeroderma pigmentosum.

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.

MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations.

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

Dental Developmental Anomalies in Facial Segmental Hemangiomas Not Related to PHACES.

Altered Ceramide Profile of Facial Sensitive Skin: Disordered Intercellular Lipid Structure Is Linked to Skin Hypersensitivity.

Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.

Smith-Lemli-Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development.

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.

Intracranial hypertension in a patient with Hutchinson-Gilford progeria syndrome.

3D facial imaging: a novel approach for metabolic abnormalities risk profiling.

Rubinstein-Taybi Syndrome With Severe Eczema, Recurrent Infections, and Hyper IgE Profile Responsive to Dupilumab Treatment.

Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.

A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.

Upper and lower eyelid contour and positional changes after deep skin grafts in ablepharon macrostomia syndrome.

Phenotypic Spectrum of GNA11 R183C Mosaicism.

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.

From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.

Topical application of the Hedgehog inhibitor patidegib in patients with Gorlin syndrome: a phase II trial.

Pterygium Colli: A Narrative Review with a Comparative Study of Lateral Approach Techniques.

Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.

Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force.

Dermoscopic Features of Pili Annulati: Features of PA.

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome with Multiple Drugs (Leflunomide and Cefuroxime): A Case Report.

Folliculocentric tinea versicolor: a case report.

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Unraveling the unphosphorylated STAT3-unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome.

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Efficacy and safety of non-cross-linked hyaluronic acid compound in the treatment of keratosis pilaris: A split-body randomized clinical trial.

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.

The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.

Oral Manifestations of Parry-Romberg Syndrome: A Case Report.

Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma.

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.

Modified Reverse Hatchet Flap for Ablepharon-Macrostomia Syndrome.

A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.

A Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?

Efficacy of fractional radiofrequency in the treatment of erythematous capillary rosacea: A split-face study.

Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.

Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.

Review of facial acanthosis nigricans: Easy to diagnose and difficult to treat marker of hyperinsulinemia/metabolic syndrome.

"An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome".

Sweet Syndrome as a Herpetiform Mimic: A Diagnostic Challenge.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Adams-Oliver syndrome: About a case.

Lambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome.

Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.

Keratosis pilaris treatment paradigms: assessing effectiveness across modalities.

Perplexing First Branchialcleft Anomalies-A Case Series with Review of Literature.

A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?

Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.

Soft-tissue, non-osteogenic distraction of the mandible and lower face in bilateral hemifacial microsomia-technical report.

Epicanthoplasty: Social and historical perspectives.

Outcomes for expanded polytetrafluoroethylene strip in frontalis suspension surgery.

Evaluation of a Moisturizing Cream with 20% Urea for Keratosis Pilaris.

Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.

Preoperative sleep-disordered breathing and craniofacial abnormalities are risk factors for postoperative sleep-disordered breathing in patients undergoing skin-flap oropharyngeal reconstruction surgery for oral cavity cancer: a prospective case-control study.

Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.

Unilateral Hyperpigmented Facial Lesion Since Birth.

Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.

An Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report.

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review.

A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.

Case Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome.

Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.

Congenital Telangiectatic Erythema: Scoping Review.

Combining antimicrobial substances for Campylobacter post harvest mitigation on chicken breast fillet and chicken skin - any synergistic effects?

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report.

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

Improvement of 1-Stage Comprehensive Operation Technique for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.

Fatal leukodystrophy in Costello syndrome: a case report.

Effects of TP63 mutations on keratinocyte adhesion and migration.

Isolated diffuse choroidal hemangioma without systemic symptoms: a case report.

Fetal Phenotype and Prenatal Diagnosis of Kabuki Syndrome.

Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.

Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis.

Chicken skin based Milli Watt range biocompatible triboelectric nanogenerator for biomechanical energy harvesting.

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome.

Dermatological findings in Rubinstein-Taybi Syndrome.

Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome.

Keratosis pilaris: an update and approach to management.

Cat Eye Syndrome with a Unique Liver and Dermatological Presentation.

Focal Dermal Hypoplasia: Case Series.

Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review.

Multiple facial angiofibromas: A manifestation of Frank-ter Haar syndrome?

Dermatoses in overweight and obese children and their relationship with insulin and skin color.

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.

Sturge-Weber Syndrome: A Case Embedded With All the Features of Spectrum.

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.

Börjeson-Forssman-Lehmann syndrome: A case report.

ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features.

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.

Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.

Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.

Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.

An automatic facial landmarking for children with rare diseases.

Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.

Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.

Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.

Dermatological manifestations, management, and care in RASopathies.

Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.

Keratosis follicularis spinulosa decalvans in a woman with XY karyotype.

Serpentine Supra-venous Hyperpigmentation "Badge of Courage" in Fight Against Cancer: An Brief Review.

Goltz Syndrome Combined with Triple X Syndrome, a Case Report.

Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report.

Evolution in the clinic: Maladaptive units and "minor anomalies".

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

DRUG-INDUCED HYPERSENSITIVITY SYNDROME CAUSED BY LAMOTRIGINE, A CASE REPORT.

Acanthosis Nigricans: Pointer of Endocrine Entities.

[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature.

Bilateral cranial nerve involvement with facial asymmetry in a case of goldenhar syndrome.

Sirenomelia: Review of a Rare Syndrome with Case Report, Review of Anatomy, and Thoughts on Management.

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.

Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management.

The Chromatin Remodeler HELLS: A New Regulator in DNA Repair, Genome Maintenance, and Cancer.

Bilateral Cryptophthalmus: First Case Report from Nepal.

Phenotype of COL3A1/COL5A2 deletion patients.

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

Case report: Grönblad-Strandberg syndrome.

Toxic Epidermal Necrolysis: A Clinical and Therapeutic Review.

Trichorhinophalangeal Syndrome Type 1-Positive Cells in Breast Dermal Granulation Tissues and Scars: A Potential Diagnostic Pitfall.

Prenatal Diagnosis of Neu-Laxova Syndrome.

[Clinical and genetic analysis of three children with 22q13 deletion syndrome].

Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.

Comparative study of the efficacy of fractional Er: YAG 2940 nm laser and Q-switched Nd: YAG 1064 nm laser in keratosis pilaris.

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.

GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features.

Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China.

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings.

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.

Keratosis pilaris and filaggrin loss-of-function mutations in patients with atopic dermatitis - Results of a Finnish cross-sectional study.

De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.