Disease: Chondrodysplasia lethal recessive
- A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
- A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessi
- A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB
- A distinct chondrodysplasia resembling Kniest dysplasia: clinical, roentgenographic, histologic, and ultrastructural findings
- A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia
- A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
- A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders
- A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density
- A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2
- A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation
- A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan
- A second family with autosomal recessive spondylometaphyseal dysplasia and early death
- A structural UGDH variant associated with standard Munchkin cats
- Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
- Achondrogenesis. Ultrasonic diagnosis and clinical and anatomopathologic comparison
- Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome
- An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies
- An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
- An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene
- Antenatal diagnosis of achondrogenesis. Two successive cases in the same family
- Atelosteogenesis type II: sonographic and radiological correlation
- Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
- Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review
- Cholesterol metabolism deficiency
- Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature
- Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders
- Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations
- Clinical and radiographic delineation of odontochondrodysplasia
- Clinical genetics and pathobiology of ciliary chondrodysplasias
- Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias
- Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder
- Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant
- Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
- DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III
- Dyssegmental dwarfism: a histologic study of osseous and nonosseous cartilage
- Dyssegmental dwarfism: a new syndrome of lethal dwarfism
- Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
- Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development
- Early embryonic chondrodystrophy in Japanese quail
- Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
- Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia
- Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation
- Fibrochondrogenesis in male twins at 24 weeks gestation
- Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology
- First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia
- Genetic defects in postsqualene cholesterol biosynthesis
- Genetic diseases of sheep and goats
- Hereditary chondrodystrophy in the rabbit. Genetics and pathology of a new mutant, a model for metatropic dwarfism
- Hypoparathyroidism and Pseudohypoparathyroidism
- Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations
- Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1
- Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant
- Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias
- Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features
- Prenatal diagnosis of a pancreatic cyst due to Ivemark II syndrome
- Prenatal diagnosis of chondrodysplasia punctata by sonography
- Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hunermann syndrome)
- Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type"
- Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
- Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature
- Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports
- Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview
- Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies
- Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
- Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1
- Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
- Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome
- Targeting FGFR3 signaling and drug repurposing for the treatment of SLC26A2-related chondrodysplasia in mouse model
- The genetics of short stature
- Ultrastructural abnormalities in bone and calcifying cartilage in two siblings with a newly described recessive lethal chondrodysplasia
- Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter
- Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases
- WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
- X-chromosome-linked hereditary dermatoses
- X-linked dominant chondrodysplasia punctata: a case report and family studies
- X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability