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

Genetic Syndromes Including Intellectual Disability and Different Cancer Types.

Clinical variation in Lowe syndrome: what and how?

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

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

[Genetic analysis of a patient with Weiss-Kruszka syndrome due to variant of ZNF462 gene].

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

Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome With Multisystem Involvement: Imaging and Genetic Insights From a Case Report.

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

Talents Amidst Neurological Impairment; an Interesting Case of Aicardi-Goutières Syndrome.

RHOA-associated disorder can be non-mosaic.

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

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

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

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

Broadening the PHIP-Associated Neurodevelopmental Phenotype.

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

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

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

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

RNA variant assessment using transactivation and transdifferentiation.

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

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.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

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

[Genetic diagnosis and analysis of eight cases with central 22q11.2 deletion syndrome].

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

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.

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant.

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

Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.

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

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

Fatal leukodystrophy in Costello syndrome: a case report.

Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome.

Dermatological findings in Rubinstein-Taybi Syndrome.

Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review.

Cat Eye Syndrome with a Unique Liver and Dermatological Presentation.

Focal Dermal Hypoplasia: Case Series.

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

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.

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.

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

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.

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

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

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

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Phenotype of COL3A1/COL5A2 deletion patients.

An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.

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

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

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.

Gorlin Syndrome: Assessing Genotype-Phenotype Correlations and Analysis of Early Clinical Characteristics as Risk Factors for Disease Severity.

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

GM3 synthase deficiency in non-Amish patients.

Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.

Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.

Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study.

A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.

Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.

Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review.

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.

Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother.

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.

MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.

Osteoporosis Pseudoglioma Syndrome.

Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

A pilot clinical trial with losartan in Myhre syndrome.

A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation.

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.

Trichothiodystrophy type 4 in an Indian family.

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.

Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series.

Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.

Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.

Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.

Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature.

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

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Tuberous sclerosis: a review of the past, present, and future.

A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.

Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.

Renpenning syndrome in a female.

Cutis marmorata telangiectatica congenita: a literature review.

Prehepatic portal hypertension of a vascular origin: Klippel-Trenaunay syndrome.

Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies.

[A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].

Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation.

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cellular and animal models of skin alterations in the autism-related ADNP syndrome.

First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

Hypomelanosis of Ito with gynaecomastia and dental anomaly.

Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features.

HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation.

Cutis laxa in a patient with 1p36 deletion syndrome.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.

Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome.

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results.

Amino acid synthesis deficiencies.

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism.

Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Pharmacotherapeutic Considerations for Individuals with Down Syndrome.

Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.

Neurocutaneous Manifestations of Genetic Mosaicism.

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

Mosaic trisomy 8 detected by fibroblasts cultured of skin.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.

A Familial 14q32.32q32.33 Duplication/17p13.3 Deletion Syndrome with Facial Anomalies and Moderate Intellectual Disability.

Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.

On the phenotypic spectrum of serine biosynthesis defects.

CANDLE Syndrome: orodfacial manifestations and dental implications.

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

The role of MAGT1 in genetic syndromes.

[Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Fallot].

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

[Leucoderma in children: Review of the literature].

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.

Pallister-Killian syndrome: a study of 22 British patients.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome.

A clinical case report and literature review of the 3q29 microdeletion syndrome.

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.