Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Prenatal Diagnosis of Cartilage-Hair Hypoplasia: A Narrative Review.

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.

Refractory/Relapsed Hodgkin Lymphoma in Cartilage Hair Hypoplasia-Anauxetic Dysplasia Spectrum: Long-term HSCT-free Remission in 2 Pediatric Siblings.

Precision T cell correction platform for inborn errors of immunity.

Neonatal erythroderma in a patient with cartilage-hair hypoplasia: Identification of a novel RMRP mutation.

RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.

Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.

Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.

Prediction of LncRNA-protein Interactions Using Auto-Encoder, SE-ResNet Models and Transfer Learning.

Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.

Long noncoding RNA RMRP ameliorates doxorubicin-induced apoptosis by interacting with PFN1 in a P53-Dependent manner.

Japanese siblings with cartilage-hair hypoplasia exhibiting different severity.

Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study.

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia.

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form.

Reduced Intensity Conditioning Allogeneic Transplant for SCID Associated with Cartilage Hair Hypoplasia.

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Cartilage-hair hypoplasia with T-cell dysfunction.

Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course.

A novel experimental approach for the selective isolation and characterization of human RNase MRP.

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.

Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts.

Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls.

[Cartilage hair hypoplasia with severe combined immunodeficiency caused by a novel RMRP gene variant].

Long Non-coding RNA RMRP in the Pathogenesis of Human Disorders.

Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis.

Partial recapitulation of fetal thymic T-cell constitution postnatally in a patient with cartilage hair hypoplasia-anauxetic dysplasia spectrum disorder: A case report.

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.

Crystal structure of human RPP20-RPP25 proteins in complex with the P3 domain of lncRNA RMRP.

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study.

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.

The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia.

Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.

Rituximab and intense chemotherapy in a patient with defective cell mediated immunity due to cartilage-hair hypoplasia and Burkitt lymphoma.

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

[Cartilage-hair hypoplasia. A case report].

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.

'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.

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling.

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).

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

The antiviral protein viperin regulates chondrogenic differentiation via CXCL10 protein secretion.

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females.

Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.

Anauxetic dysplasia: A rare clinical entity.

[Syndromic Hirschsprung′s disease and its mode of inheritance].

Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis.

Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia.

Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases.

Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets.

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.

Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism.

Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.

Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing.

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Decreased telomere length in children with cartilage-hair hypoplasia.

Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.

The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.

Hirschsprung's disease associated with alopecia universalis congenita: a case report.

High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia.

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.

DDX5 and its associated lncRNA Rmrp modulate TH17 cell effector functions.

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].

Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?