• 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations
• A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia
• A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis
• A novel experimental approach for the selective isolation and characterization of human RNase MRP
• A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity)
• A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia
• Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia
• Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
• An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
• Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia
• Anauxetic dysplasia: A rare clinical entity
• Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
• Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype
• Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis
• Cartilage hair hypoplasia with severe combined immunodeficiency caused by a novel RMRP gene variant
• Cartilage hair hypoplasia: characteristics and orthopaedic manifestations
• Cartilage Hair Hypoplasia: First report from Iran
• Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene
• Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene
• Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report
• Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis
• Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype
• Cartilage-hair hypoplasia with T-cell dysfunction
• Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report
• Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients
• Cartilage-hair hypoplasia. A case report
• Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency
• Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases
• Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls
• Crystal structure of human RPP20-RPP25 proteins in complex with the P3 domain of lncRNA RMRP
• Cut to the quick
• Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature
• DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions
• Decreased telomere length in children with cartilage-hair hypoplasia
• Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia
• Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia
• Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia
• Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases
• Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
• Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report
• Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation
• Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge
• Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation
• Further evidence of POP1 mutations as the cause of anauxetic dysplasia
• Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity
• Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females
• High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia
• Hirschsprung disease
• Hirschsprung's disease associated with alopecia universalis congenita: a case report
• Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings
• Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings
• Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
• How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies
• Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes
• Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation
• Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
• Identification of Novel and Recurrent <em>RMRP</em> Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome
• Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome
• Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management
• Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course
• Japanese siblings with cartilage-hair hypoplasia exhibiting different severity
• Long Non-coding RNA RMRP in the Pathogenesis of Human Disorders
• Long noncoding RNA RMRP ameliorates doxorubicin-induced apoptosis by interacting with PFN1 in a P53-Dependent manner
• Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form
• MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
• Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
• Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia
• Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study
• Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study
• Partial recapitulation of fetal thymic T-cell constitution postnatally in a patient with cartilage hair hypoplasia-anauxetic dysplasia spectrum disorder: A case report
• Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature
• Prediction of LncRNA-protein Interactions Using Auto-Encoder, SE-ResNet Models and Transfer Learning
• Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism
• Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study
• Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets
• Reduced Intensity Conditioning Allogeneic Transplant for SCID Associated with Cartilage Hair Hypoplasia
• Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases
• Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders
• Ribosomopathies: mechanisms of disease
• Rituximab and intense chemotherapy in a patient with defective cell mediated immunity due to cartilage-hair hypoplasia and Burkitt lymphoma
• Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/beta-Catenin Signaling
• Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling
• RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review
• Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
• RUNX1-dependent mechanisms in biological control and dysregulation in cancer
• Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia
• Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
• Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia
• Syndromic Hirschsprung&amp;prime;s disease and its mode of inheritance
• Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing
• The antiviral protein viperin regulates chondrogenic differentiation via CXCL10 protein secretion
• The Finnish founder mutation c.70 A&gt;G in RMRP causes cartilage-hair hypoplasia in a Pakistani family
• The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family
• The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2
• The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia
• Treatment of cartilage-hair hypoplasia with recombinant human growth hormone
• Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts
• Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
• Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations
• Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?