Disease: Pterygium syndrome multiple dominant type
- A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic
- A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies
- A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders
- Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene
- Autosomal dominant mental retardation type 5 caused by <em>SYNGAP1</em> gene mutations: a report of 8 cases and literature review
- Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
- Autosomal dominant Ullrich congenital muscular dystrophy due to a <em>de novo</em> mutation in <em>COL6A3</em> gene. A case report
- Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
- Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease
- Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene
- Hyperpigmentation in a Chinese family with autosomal dominant Cole disease
- Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss
- Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)
- Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Myopathies associated with β-tropomyosin mutations
- Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern
- Novel Molecular Genetic Etiology of Asymmetric Hearing Loss: Autosomal-Dominant LMX1A Variants
- NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
- Plasma glial fibrillary acidic protein in autosomal dominant Alzheimer's disease: Associations with Aβ-PET, neurodegeneration, and cognition
- Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
- The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree
- Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome