• A case of brachyolmia
• A Missense Mutation (c.1037 G &gt; C, p. R346P) in <em>PAPSS2</em> Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family
• A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family
• A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
• A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature
• A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in <em>LTBP3</em>
• A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3
• Autosomal Dominant <em>TRPV4</em> Disorders
• Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course
• Autosomal dominant brachyolmia: transient metaphyseal striations
• Autosomal recessive brachyolmia: early radiological findings
• Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation
• Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India
• Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
• Bone Phenotype is Always Present; Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
• Brachyolmia and spinal stenosis
• Brachyolmia at autosomal recessive transmission
• Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity
• Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients
• Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study
• Brachyolmia: a report of two cases
• Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion
• Brachyolmia: an autosomal dominant form
• Brachyolmia: radiographic and genetic evidence of heterogeneity
• Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations
• Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia)
• Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome
• Familial brachyolmia
• Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
• First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta
• Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations
• Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
• Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
• IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA
• Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature
• Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation
• Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders
• Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
• Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
• Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
• New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels
• Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
• Novel Inactivating Homozygous <em>PAPSS2</em> Mutation in Two Siblings With Disproportionate Short Stature
• PAPSS2 mutations cause autosomal recessive brachyolmia
• PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases
• Proceedings: Pure spondyloepiphyseal dysplasia or brachyolmia
• Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
• Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia
• Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG)
• Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations
• The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)
• The vanilloid transient receptor potential channel TRPV4: from structure to disease
• Toledo type brachyolmia
• Toledo type brachyolmia
• Transient receptor potential genes and human inherited disease
• TRPV4 expresses in bone cell lineages and TRPV4-R616Q mutant causing Brachyolmia in human reveals "loss-of-interaction" with cholesterol
• TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
• TRPV4-associated skeletal dysplasias
• TRPV4-mediated channelopathies
• TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients
• TRPV4-pathy, a novel channelopathy affecting diverse systems
• Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?
• Two sibs with brachyolmia type Hobaek: five year follow-up through puberty
• Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias
• Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia
• Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force