New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

Genetic Syndromes Including Intellectual Disability and Different Cancer Types.

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

Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.

Delayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome.

Executive and Social Functioning in Children and Adolescents With Noonan Syndromes: Cognition and Behavior.

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.

Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.

[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].

Alteration of Hair Melanin in Patients With Mowat-Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.

Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.

Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues.

Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.

[Clinical characteristics analysis of children with Noonan-like syndrome with loose anagen hair].

Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder.

Pregabalin treatment in a 30-year-old patient with Bainbridge-Ropers syndrome: a case-report.

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

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.

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

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of TCF12.

Brain and the whole-body bone imaging appearances in Menkes disease: a case report and literature review.

Caudal regression in fetus with de novo SMARCA2 pathogenic variant.

TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea.

Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.

Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants.

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

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.

Oral and dental abnormalities in Coffin Siris syndrome : A new case report.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

[Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene].

Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.

Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report.

Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Autism spectrum disorder and Coffin-Siris syndrome-Case report.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.

Börjeson-Forssman-Lehmann syndrome: A case report.

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

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

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

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

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study.

Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene.

Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients.

Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia.

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.

Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.

[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].

Microdeletion of 4p16.2 in Children: A Case Report and Literature Review.

Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Zinc deficiency and supplementation in autism spectrum disorder and Phelan-McDermid syndrome.

DNA methylation episignature in Gabriele-de Vries syndrome.

Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype.

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.

Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux.

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.

Coat Color-Facilitated Efficient Generation and Analysis of a Mouse Model of Down Syndrome Triplicated for All Human Chromosome 21 Orthologous Regions.

[Gender difference in clinical manifestations of KBG syndrome due to variants of ANKRD11 gene].

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.

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

A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review.

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

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

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

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

Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.

Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.

A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.

A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability.

Trichothiodystrophy type 4 in an Indian family.

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant.

Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.

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

Primrose syndrome: Characterization of the phenotype in 42 patients.

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.

Ocular findings and strabismus surgery outcomes in Chinese children with Angelman syndrome: Three case reports.

Perampanel-induced hair curling in a patient with epilepsy associated with Pitt Hopkins syndrome.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

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

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.

Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome.

Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

A tale of subcutaneous nodules, broad thumbs, supernumerary teeth, and intellectual disability in a patient.

A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.

PIBIDS syndrome in two Brazilian siblings.

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.

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

Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows.

A 69-year-old woman with Coffin-Siris syndrome.

Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings.

17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability.

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.

Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation.

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

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Supernumeraries in Nicolaides-Baraitser Syndrome.

Bioelements in hair of children with selected neurological disorders.

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.

Association of AHSG with alopecia and mental retardation (APMR) syndrome.

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

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Intellectual Disability: When the Hypertrichosis Is a Clue.

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.

Short stature with congenital ichthyosis.

Waardenburg Syndrome: A Case Study of Two Patients.

Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012.

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

Neuroimaging and clinical characterization of Sotos syndrome.

RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.