Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

A rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings.

Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.

Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome.

Castleman Disease Variant POEMS Syndrome Presenting as Polyradiculoneuropathy in a Child: A Case Report.

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers.

A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.

Fibroblast bioelectric signaling drives hair growth.

Breast Reconstruction in Becker Nevus Syndrome.

Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.

Genealogical Rabson-Mendenhall syndrome caused by INSR gene mutation.

Porphyria cutanea tarda and systemic lupus erythematosus: a case report.

Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome.

Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.

Hypertrichosis Cubiti Presenting in a Female Child: A Case Report.

[MEP-46] A Case of Cyclosporine-Associated Early Hyperpigmentation.

Report of Hidradenitis Suppurativa in an Individual Affected by Rubinstein-Taybi Syndrome.

Focal Hypertrichosis during Topical Tacrolimus Therapy for Vitiligo: A Case Report.

Characterization and Management of Adverse Events of Low-Dose Oral Minoxidil Treatment for Alopecia: A Narrative Review.

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Eyelash trichomegaly complicating pembrolizumab for colorectal cancer.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report.

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

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

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

The Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkey.

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.

Congenital erythropoietic porphyria five years observation with standard treatment: a case report.

A child with Winchester syndrome responding to oral betamethasone and methotrexate.

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.

Erythrodermic Presentation of Atopic Dermatitis in a Patient with Secondary Adrenal Insufficiency Caused by Oral Glucocorticosteroid Abuse.

Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.

H syndrome treated with Tocilizumab: two case reports and literature review.

Stiff skin syndrome: a clinicopathological study of 31 cases.

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Juvenile Dermatomyositis With Rare Cutaneous Manifestation: Generalised Hypertrichosis.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation].

Neonatal diagnosis of circumferential skin creases.

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

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

Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent KATP Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome.

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.

Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.

A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.

Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.

ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year.

Case report of H-syndrome with a review from a rheumatological perspective.

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

H Syndrome: Report of The First Case in African Ethnicity.

Between a rock and a hard place: management of systemic lupus erythematosus and porphyria cutanea tarda.

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.

Severe Hip Dysplasia in Wiedemann-Steiner Syndrome Treated with Bilateral Bernese Periacetabular Osteotomy: A Case Report.

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.

Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.

Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.

Update of recent findings in genetic hair disorders.

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing.

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.

H syndrome: A review of treatment options and a hypothesis of phenotypic variability.

Young adult with Cantú syndrome: dealing with a rare genetic skin disorder.

Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2.

Scleral Compromise in Hereditary Porphyria Cutanea Tarda.

'H-syndrome': a multisystem genetic disorder with cutaneous clues.

Oliver McFarlane syndrome: two new cases and a review of the literature.

Kabuki Syndrome-Clinical Review with Molecular Aspects.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.

Segmental stiff skin syndrome (SSS): Clinical case and a brief review.

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.

Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.

Neurocutaneous melanocytosis (melanosis).

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Facial Dysmorphism, Hirsutism, and Failure to Thrive as Manifestation of Leigh Syndrome in a Child with SURF1 Mutation.

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.

Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?

Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

Oliver McFarlane syndrome and choroidal neovascularisation: a case report.

H syndrome: A rare genodermatosis.

"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?

Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature.

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.

Thrombosis revealing POEMS syndrome. About a case.

First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.

Cantu syndrome: A longitudinal review of vascular findings in three individuals.

Ramon Syndrome- A Rare Form of Cherubism.

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Cantu syndrome and hypopituitarism: implications for endocrine monitoring.

Wiedemann-Steiner syndrome in two patients from Portugal.

Michelin Tire Baby Syndrome: A Rare Case with Review of Literature.

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.

You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery.

Differences in skin lesions of endogenous and exogenous Cushing's patients.

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

An Interesting Coexistence of Multifocal Hypertrichosis and Hirsutism in Hypomelanosis of Ito.

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

Angiosarcoma associated with hypertrichosis.

H syndrome: Clinical, histological and genetic investigation in Tunisian patients.

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

The First Reported Case of Fibrous Hamartoma of Infancy with Hyperhidrosis and Hypertrichosis in Korea.

Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.

POEMS syndrome presentation with progressive weakness in upper and lower limbs: A case report.

H syndrome: 5 new cases from the United States with novel features and responses to therapy.

Neonatal hemolytic anemia does not always indicate thalassemia: a case report.

Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome.

Cantú Syndrome Associated with Ovarian Agenesis.

Barber-say syndrome: a confirmed case of TWIST2 gene mutation.

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

Dermoscopic Findings of Scalp Aplasia Cutis Congenita.

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

[A new type of ATP-sensitive potassium channelopathy : Cantú syndrome].

Monoclonal gammopathy of cutaneous significance: review of a relevant concept.

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Cutaneous manifestations of lung cancer.

The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics.

Safety Concerns for Sclerotherapy of Telangiectases, Reticular and Varicose Veins.

Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.

POEMS Syndrome: A Rare Disease With A Challenging Diagnosis.

POEMS Syndrome with IgG-λ/IgA-κ Biclonal Gammopathy and Abnormal Serum Free Light Chain Ratio: a Case Report.

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation.

The ocular phenotype of stiff-skin syndrome.

Hypertrichosis lanuginosa acquisita: a rare dermatological disorder.

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

POEMS syndrome with peripheral and central nervous system demyelination: case report.

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.

Adverse effects of topical corticosteroids in paediatric eczema: Australasian consensus statement.