Disease: Skeletal dysplasia orofacial anomalies
- A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
- A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia
- A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
- Associated anomalies in cases with achondroplasia
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
- Brain dysplasia associated with Larsen-like syndrome
- Cephalometric analysis of Rapp-Hodgkin syndrome
- Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities
- Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
- Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes
- Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form
- Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports
- Czech dysplasia metatarsal type: another type II collagen disorder
- Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice
- Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding
- EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells
- Implications for tooth development on ENU-induced ectodermal dysplasia mice
- IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
- Maxillary distraction for the management of cleft maxillary hypoplasia with a rigid external distraction system
- Modeling the <em>ACVR1</em><sup><em>R206H</em></sup> mutation in human skeletal muscle stem cells
- Modeling the ACVR1(R206H) mutation in human skeletal muscle stem cells
- Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models
- Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases
- Orofacial characteristics in a child with Hajdu-Cheney syndrome
- Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy
- Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1
- Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome
- Roentgencraniometric analysis of the angular craniofacial dimensions in subjects with temporomandibular disorders
- Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis
- The Wagner-Stickler syndrome complex
- Thoracic disc herniation and paraplegia in Stickler's syndrome
- Translation and validation of the French version of the child perceptions questionnaire for children aged 11 to 14 years old (CPQ11-14) short-form