Disease: Microcephalic primordial dwarfism
- A novel variant in NSUN2 causes intellectual disability in a Chinese family
- Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy
- Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
- Association of Mutations in Replicative DNA Polymerase Genes with Human Disease: Possible Application of <em>Drosophila</em> Models for Studies
- B-cell immune deficiency in twin sisters expands the phenotype of MOPDI
- Biallelic variants in <em>DNA2</em> cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
- Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the <em>PCNT</em> gene associated with microcephalic osteodysplastic primordial dwarfism type II
- Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
- Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene
- Clinical profile of Laron dwarfism - experience from a tertiary care institute in Chennai
- Cockayne Syndrome
- Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
- DONSON is required for CMG helicase assembly in the mammalian cell cycle
- DONSON: Slding in 2 the limelight
- Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report
- Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size
- Hereditary dentin defects with systemic diseases
- HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B
- Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma
- Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
- In silico protein interaction screening uncovers DONSON's role in replication initiation
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in <em>RTTN</em> Gene: A Seckel Syndrome Case Report
- Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report
- Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
- Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome
- Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation
- PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serin biosynthesis defect
- PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
- Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment
- RNU4atac-opathy
- Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
- Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II