Brachydactyly Mononen Type Latest Advances

Find the Latest Research About Brachydactyly Mononen Type

Last Updated: 06/30/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 7763 publications

A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

Journal: The Journal of international medical research

Published: June 18, 2026

Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center Study.

Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center Study.

Journal: Journal of clinical medicine

Published: April 19, 2026

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Journal: JBJS case connector

Published: April 10, 2026

Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.

Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.

Journal: Research square

Published: April 03, 2026

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Journal: European journal of pediatrics

Published: March 27, 2026

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Journal: Genes

Published: March 22, 2026

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Journal: Genes

Published: March 02, 2026

Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management.

Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management.

Journal: Molecular genetics and metabolism

Published: February 28, 2026

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

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

Journal: BMJ case reports

Published: February 20, 2026

Hip Dislocation With Femoral Short Neck in Spondyloepiphyseal Dysplasia Treated by Open Reduction and Valgus Osteotomy: A Case Report.

Hip Dislocation With Femoral Short Neck in Spondyloepiphyseal Dysplasia Treated by Open Reduction and Valgus Osteotomy: A Case Report.

Journal: Cureus

Published: February 16, 2026

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.

Journal: BMC pediatrics

Published: February 09, 2026

Gut microbiota dysbiosis induced by tibial dyschondroplasia in turn accelerates disease pathogenesis through the gut-bone axis in broilers.

Gut microbiota dysbiosis induced by tibial dyschondroplasia in turn accelerates disease pathogenesis through the gut-bone axis in broilers.

Journal: Poultry science

Published: February 07, 2026

Showing 1-12 of 7,763

Last Updated: 06/30/2026