Cartilage-Hair Hypoplasia Latest Advances

Find the Latest Research About Cartilage-Hair Hypoplasia

Last Updated: 02/24/2026

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Found 271 publications

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

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

Journal: Medicine
Published: August 24, 2025

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

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

Journal: Acta medica portuguesa
Published: June 06, 2025

Precision T cell correction platform for inborn errors of immunity.

Precision T cell correction platform for inborn errors of immunity.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: February 14, 2025

Precision T cell correction platform for Inborn Errors of Immunity.

Precision T cell correction platform for Inborn Errors of Immunity.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: February 14, 2025

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

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

Journal: Laboratory medicine
Published: September 25, 2024

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

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

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: September 23, 2024

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

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

Journal: Molecular medicine reports
Published: September 12, 2024

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

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

Journal: Medicine
Published: May 24, 2024

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

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

Journal: Journal of clinical immunology
Published: February 23, 2024

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

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

Journal: Scientific reports
Published: February 19, 2024

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

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

Journal: The Australasian journal of dermatology
Published: January 09, 2024

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

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

Journal: MicroRNA (Shariqah, United Arab Emirates)
Published: December 04, 2023
Showing 1-12 of 271

Last Updated: 02/24/2026