Disease: Mental retardation short stature microcephaly eye
- <em>CTCF</em>-Related Disorder
- 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
- 22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS
- A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
- A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2
- A fourth case of Feingold syndrome type 2: psychiatric presentation and management
- A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
- A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency
- Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood
- An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration
- Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
- Brain white matter abnormalities associated with copy number variants
- Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome
- Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype
- Cockayne's syndrome: case report
- Cornella de Lange syndrome or Amsterdam dwarfism
- De Sanctis-Cacchione syndrome: A case report and literature review
- Dental management of a child with trisomy 9 mosaicism: a case report
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
- Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
- Eye manifestations in the <em>NSUN2</em> intellectual disability syndrome
- Eye manifestations in the NSUN2 intellectual disability syndrome
- Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
- Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity
- Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
- Genetic disorders associated with postnatal microcephaly
- Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
- Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
- How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
- Kenny-Caffey syndrome: an Arab variant?
- Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature
- LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
- Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
- Megalocornea and mental retardation syndrome: two new cases
- MICRO syndrome: an entity distinct from COFS syndrome
- Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (<em>PQBP1</em>) gene
- Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability
- Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2
- New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome
- New ocular finding in Baraitser-Winter syndrome (BWS)
- Novel compound heterozygous mutations in <em>TELO2</em> in a patient with severe expression of You-Hoover-Fong syndrome
- Ocular manifestations of Seckel syndrome
- Oculo-palato-cerebral dwarfism: a new syndrome
- Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance
- Postnatal diagnosis
- Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
- PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome
- Recurrent Ptosis in a Case of Dubowitz Syndrome
- Renpenning syndrome in a female
- Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?
- Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
- Ring chromosome 6: case report and review
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene
- The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
- Two cases of 16q12.1q21 deletions and refinement of the critical region
- Visual Recovery and Endothelial Cell Survival After Descemet Stripping Automated Endothelial Keratoplasty for Failed Penetrating Keratoplasty Grafts—A Cohort Study